ClinVar

NM_173477.5(USH1G):c.678C>A (p.Gly226=)

Gene:

USH1G:USH1 protein network component sans [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.1

Genomic location:

• Chr17: 74920158 (on Assembly GRCh38)
• Chr17: 72916253 (on Assembly GRCh37)

Preferred name:

NM_173477.5(USH1G):c.678C>A (p.Gly226=)

HGVS:

• NC_000017.11:g.74920158G>T
• NG_007882.2:g.8106C>A
• NG_033062.2:g.884G>T
• NM_001282489.3:c.369C>A
• NM_173477.5:c.678C>AMANE SELECT
• NP_001269418.1:p.Gly123=
• NP_775748.2:p.Gly226=
• LRG_1416t1:c.678C>A
• LRG_1416:g.8106C>A
• LRG_1416p1:p.Gly226=
• NC_000017.10:g.72916253G>T
• NG_033062.1:g.884G>T
• NM_173477.2:c.678C>A
• c.678C>A
• p.Gly226Gly

This HGVS expression did not pass validation

Links:

dbSNP: rs201525855

NCBI 1000 Genomes Browser:

rs201525855

Molecular consequence:

• NM_001282489.3:c.369C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_173477.5:c.678C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2