RS138404783 SCN10A

Health Risk Chr 3:38752312 snv missense variant
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What This Variant Does
"CLNSIG=5
Associated Conditions
Episodic pain syndrome
familial
2
Brugada syndrome
Cardiovascular phenotype
Episodic pain syndrome
familial
2
Brugada syndrome
Cardiovascular phenotype
ClinVar Assertions (2)
NM_006514.4(SCN10A):c.1661T>C (p.Leu554Pro)
· 6 submitters
NM_006514.4(SCN10A):c.1661T>C (p.Leu554Pro)
· 6 submitters
Population Frequencies
gnomAD ALL
0%
1kG AFR
100%
1kG ALL
100%
1kG AMR
100%
1kG EAS
100%
1kG EUR
0.1%
1kG SAS
100%
Other Variants in SCN10A
rs148963942 rs145032037 rs774893568 rs138832868 rs78555408 rs142884499 rs145568435 rs201955990 rs375274122 rs201706560
Ask Dr. Hemsworth about this variant