SCLT1 Chromosome 4
Sodium channel and clathrin linker 1
Upload your DNA to see your personal genotypes for variants in SCLT1.
What This Gene Does
This gene encodes an adaptor protein. Studies of a related gene in rat suggest that the encoded protein functions to link clathrin to the sodium channel protein type 10 subunit alpha protein. The encoded protein has also been identified as a component of distal appendages of centrioles that is necessary for ciliogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Associated Conditions (5)
SCLT1-related disorder
Esophageal atresia/tracheoesophageal fistula
6 conditions
Uterine corpus endometrial carcinoma
Ovarian serous cystadenocarcinoma
Key Variants
RS1324626785
Conflicting classifications of pathogenicity
Health Risk
RS147782657
Conflicting classifications of pathogenicity
SCLT1-related disorder, SCLT1-related disorder
Health Risk
RS199943075
Conflicting classifications of pathogenicity
SCLT1-related disorder, SCLT1-related disorder
Health Risk
RS372095705
Conflicting classifications of pathogenicity
Health Risk
RS376838042
Conflicting classifications of pathogenicity
SCLT1-related disorder, SCLT1-related disorder
Health Risk
RS536017829
Conflicting classifications of pathogenicity
SCLT1-related disorder, SCLT1-related disorder
Health Risk
RS760824351
Conflicting classifications of pathogenicity
SCLT1-related disorder, Esophageal atresia/tracheoesophageal fistula, SCLT1-related disorder
Health Risk
RS768908934
Conflicting classifications of pathogenicity
Health Risk
RS779281649
Conflicting classifications of pathogenicity
SCLT1-related disorder, SCLT1-related disorder
Health Risk
RS1297385603
Likely pathogenic
6 conditions, 6 conditions
Health Risk
RS1345480264
Likely pathogenic
Health Risk
RS1385129513
Likely pathogenic
Health Risk
All Variants (50)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1324626785 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147782657 | Health Risk | Conflicting classifications of pathogenicity | SCLT1-related disorder, SCLT1-related disorder |
| RS199943075 | Health Risk | Conflicting classifications of pathogenicity | SCLT1-related disorder, SCLT1-related disorder |
| RS372095705 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376838042 | Health Risk | Conflicting classifications of pathogenicity | SCLT1-related disorder, SCLT1-related disorder |
| RS536017829 | Health Risk | Conflicting classifications of pathogenicity | SCLT1-related disorder, SCLT1-related disorder |
| RS760824351 | Health Risk | Conflicting classifications of pathogenicity | SCLT1-related disorder, Esophageal atresia/tracheoesophageal fistula, SCLT1-related disorder |
| RS768908934 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS779281649 | Health Risk | Conflicting classifications of pathogenicity | SCLT1-related disorder, SCLT1-related disorder |
| RS1297385603 | Health Risk | Likely pathogenic | 6 conditions, 6 conditions |
| RS1345480264 | Health Risk | Likely pathogenic | — |
| RS1385129513 | Health Risk | Likely pathogenic | — |
| RS2125774645 | Health Risk | Likely pathogenic | — |
| RS2126003617 | Health Risk | Likely pathogenic | — |
| RS2126069168 | Health Risk | Likely pathogenic | — |
| RS2126069391 | Health Risk | Likely pathogenic | — |
| RS2530428521 | Health Risk | Likely pathogenic | — |
| RS2530497522 | Health Risk | Likely pathogenic | — |
| RS2530754837 | Health Risk | Likely pathogenic | — |
| RS770099403 | Health Risk | Likely pathogenic | Uterine corpus endometrial carcinoma, Uterine corpus endometrial carcinoma |
| RS779357435 | Health Risk | Likely pathogenic | Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma |
| RS1193560701 | Health Risk | Pathogenic | — |
| RS1227463735 | Health Risk | Pathogenic | — |
| RS138052297 | Health Risk | Pathogenic | — |
| RS1479099522 | Health Risk | Pathogenic | — |
| RS1743299340 | Health Risk | Pathogenic | SCLT1-related disorder, SCLT1-related disorder |
| RS201631269 | Health Risk | Pathogenic | — |
| RS201848700 | Health Risk | Pathogenic | — |
| RS202057318 | Health Risk | Pathogenic | — |
| RS2125793456 | Health Risk | Pathogenic | — |
| RS2125982058 | Health Risk | Pathogenic | — |
| RS2125989728 | Health Risk | Pathogenic | — |
| RS2125997083 | Health Risk | Pathogenic | — |
| RS2530086166 | Health Risk | Pathogenic | — |
| RS2530334697 | Health Risk | Pathogenic | — |
| RS2530403226 | Health Risk | Pathogenic | — |
| RS2530449928 | Health Risk | Pathogenic | — |
| RS2530497837 | Health Risk | Pathogenic | — |
| RS2530755777 | Health Risk | Pathogenic | — |
| RS587777504 | Health Risk | Pathogenic | — |
| RS757334247 | Health Risk | Pathogenic | — |
| RS757504414 | Health Risk | Pathogenic | — |
| RS758308700 | Health Risk | Pathogenic | — |
| RS760473402 | Health Risk | Pathogenic | — |
| RS760494753 | Health Risk | Pathogenic | — |
| RS761385206 | Health Risk | Pathogenic | — |
| RS764905638 | Health Risk | Pathogenic | — |
| RS772185859 | Health Risk | Pathogenic | — |
| RS781735051 | Health Risk | Pathogenic | — |
| RS867968394 | Health Risk | Pathogenic | 6 conditions, 6 conditions |