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NM_006383.4(CIB2):c.223G>A (p.Val75Met) AND Deafness, autosomal recessive 48

Significance: Uncertain significance
ClinVar: RCV000755752

Variant: NM_006383.4(CIB2):c.223G>A (p.Val75Met)

Type: Variant
Allele: NM_006383.4(CIB2):c.223G>A (p.Val75Met) 609316
Gene:
Type: single nucleotide variant
Location: Chr15: 78401700 - assembly GRCh37
Chr15: 78109358 - assembly GRCh38
References: dbSNP: 758743502

Condition

Disease: Deafness, autosomal recessive 48