C1863561[trait identifier] AND "Laboratory of Prof. Karen Avraham, Tel - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3250402	NM_153700.2(STRC):c.5185C>T (p.Arg1729Ter)	STRC (R1729*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 165311	NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly)	STRC (R1391G)	Single nucleotide variant (missense variant)	Rare genetic deafness +3 more	GConflicting classifications of pathogenicity
Select item 813830	15q15.3 deletion	STRC	Deletion	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic

Format

Sort by

Choose Destination