ClinVar

NM_153676.4(USH1C):c.1942G>A (p.Glu648Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 17509427 (on Assembly GRCh38)
• Chr11: 17530974 (on Assembly GRCh37)

Preferred name:

NM_153676.4(USH1C):c.1942G>A (p.Glu648Lys)

HGVS:

• NC_000011.10:g.17509427C>T
• NG_011883.2:g.39990G>A
• NM_001297764.2:c.1228-7447G>A
• NM_005709.4:c.1285-7447G>A
• NM_153676.4:c.1942G>AMANE SELECT
• NP_710142.1:p.Glu648Lys
• NC_000011.9:g.17530974C>T
• NG_011883.1:g.39990G>A

This HGVS expression did not pass validation

Protein change:

E648K

Links:

dbSNP: rs368729447

NCBI 1000 Genomes Browser:

rs368729447

Molecular consequence:

• NM_001297764.2:c.1228-7447G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_005709.4:c.1285-7447G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_153676.4:c.1942G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1