ClinVar

NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp)

Gene:

USH1C:USH1 protein network component harmonin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 17501974 (on Assembly GRCh38)
• Chr11: 17523521 (on Assembly GRCh37)

Preferred name:

NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp)

HGVS:

• NC_000011.10:g.17501974G>A
• NG_011883.2:g.47443C>T
• NM_001297764.2:c.1234C>T
• NM_005709.4:c.1291C>T
• NM_153676.4:c.2191C>TMANE SELECT
• NP_001284693.1:p.Arg412Trp
• NP_005700.2:p.Arg431Trp
• NP_710142.1:p.Arg731Trp
• NC_000011.9:g.17523521G>A
• NG_011883.1:g.47443C>T
• NM_005709.3:c.1291C>T
• NM_153676.3:c.2191C>T
• NR_123738.2:n.1326C>T
• c.2191C>T

This HGVS expression did not pass validation

Protein change:

R412W

Links:

dbSNP: rs397517874

NCBI 1000 Genomes Browser:

rs397517874

Molecular consequence:

• NM_001297764.2:c.1234C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005709.4:c.1291C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_153676.4:c.2191C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_123738.2:n.1326C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]