ClinVar

NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)

Gene:

USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

• Chr1: 216247118 (on Assembly GRCh38)
• Chr1: 216420460 (on Assembly GRCh37)

Preferred name:

NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)

Other names:

USH2A, CYS759PHE (rs80338902); NP_996816.3:p.(Cys759Phe)

HGVS:

• NC_000001.11:g.216247118C>A
• NG_009497.2:g.181331G>T
• NM_007123.6:c.2276G>T
• NM_206933.4:c.2276G>TMANE SELECT
• NP_009054.5:p.Cys759Phe
• NP_009054.6:p.Cys759Phe
• NP_996816.3:p.Cys759Phe
• NC_000001.10:g.216420460C>A
• NG_009497.1:g.181279G>T
• NM_007123.5:c.2276G>T
• NM_206933.2(USH2A):c.2276G>T
• NM_206933.2:c.2276G>T
• NM_206933.3:c.2276G>T
• O75445:p.Cys759Phe
• c.2276G>T
• p.(Cys759Phe)

This HGVS expression did not pass validation

Protein change:

C759F; CYS759PHE

Links:

UniProtKB: O75445#VAR_025775; OMIM: 608400.0006; dbSNP: rs80338902

NCBI 1000 Genomes Browser:

rs80338902

Molecular consequence:

• NM_007123.6:c.2276G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_206933.4:c.2276G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1