ClinVar

NM_173477.5(USH1G):c.756C>T (p.Asp252=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.1

Genomic location:

• Chr17: 74920080 (on Assembly GRCh38)
• Chr17: 72916175 (on Assembly GRCh37)

Preferred name:

NM_173477.5(USH1G):c.756C>T (p.Asp252=)

HGVS:

• NC_000017.11:g.74920080G>A
• NG_007882.2:g.8184C>T
• NG_033062.2:g.806G>A
• NM_001282489.3:c.447C>T
• NM_173477.4:c.756C>T
• NM_173477.5:c.756C>TMANE SELECT
• NP_001269418.1:p.Asp149=
• NP_775748.2:p.Asp252=
• LRG_1416t1:c.756C>T
• LRG_1416:g.8184C>T
• LRG_1416p1:p.Asp252=
• NC_000017.10:g.72916175G>A
• NG_033062.1:g.806G>A
• NM_173477.2:c.756C>T
• p.Asp252Asp

This HGVS expression did not pass validation

Links:

dbSNP: rs146752863

NCBI 1000 Genomes Browser:

rs146752863

Molecular consequence:

• NM_001282489.3:c.447C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_173477.5:c.756C>T - synonymous variant - [Sequence Ontology: SO:0001819]