ClinVar

NM_153676.4(USH1C):c.2240A>G (p.Gln747Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 17501522 (on Assembly GRCh38)
• Chr11: 17523069 (on Assembly GRCh37)

Preferred name:

NM_153676.4(USH1C):c.2240A>G (p.Gln747Arg)

HGVS:

• NC_000011.10:g.17501522T>C
• NG_011883.2:g.47895A>G
• NM_001297764.2:c.1283A>G
• NM_005709.4:c.1340A>G
• NM_153676.4:c.2240A>GMANE SELECT
• NP_001284693.1:p.Gln428Arg
• NP_005700.2:p.Gln447Arg
• NP_710142.1:p.Gln747Arg
• NC_000011.9:g.17523069T>C
• NG_011883.1:g.47895A>G
• NM_005709.3:c.1340A>G
• NM_153676.3:c.2240A>G
• NR_123738.2:n.1375A>G

This HGVS expression did not pass validation

Protein change:

Q428R

Links:

dbSNP: rs201600193

NCBI 1000 Genomes Browser:

rs201600193

Molecular consequence:

• NM_001297764.2:c.1283A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_005709.4:c.1340A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_153676.4:c.2240A>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_123738.2:n.1375A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]