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Links from MedGen

Items: 3

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
Autosomal dominant nonsyndromic hearing loss 16Pathogenic
(Feb 19, 2016)
no assertion criteria provided
2.
STRCAutosomal dominant nonsyndromic hearing loss 16Pathogenic
(Feb 19, 2016)
no assertion criteria provided
3.
GRCh37:
Chr15:43896606
GRCh38:
Chr15:43604408
STRCR1391GRare genetic deafness, not provided, Autosomal recessive nonsyndromic hearing loss 16
Likely pathogenic
(Jan 10, 2020)
criteria provided, multiple submitters, no conflicts
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