ClinVar

NM_206933.4(USH2A):c.2195G>T (p.Gly732Val)

Gene:

USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

• Chr1: 216247199 (on Assembly GRCh38)
• Chr1: 216420541 (on Assembly GRCh37)

Preferred name:

NM_206933.4(USH2A):c.2195G>T (p.Gly732Val)

HGVS:

• NC_000001.11:g.216247199C>A
• NG_009497.2:g.181250G>T
• NM_007123.6:c.2195G>T
• NM_206933.4:c.2195G>TMANE SELECT
• NP_009054.6:p.Gly732Val
• NP_996816.3:p.Gly732Val
• NC_000001.10:g.216420541C>A
• NG_009497.1:g.181198G>T
• NM_206933.2:c.2195G>T

This HGVS expression did not pass validation

Protein change:

G732V

Links:

dbSNP: rs1360258103

NCBI 1000 Genomes Browser:

rs1360258103

Molecular consequence:

• NM_007123.6:c.2195G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_206933.4:c.2195G>T - missense variant - [Sequence Ontology: SO:0001583]