ClinVar

NM_153676.4(USH1C):c.2000C>T (p.Pro667Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 17509369 (on Assembly GRCh38)
• Chr11: 17530916 (on Assembly GRCh37)

Preferred name:

NM_153676.4(USH1C):c.2000C>T (p.Pro667Leu)

HGVS:

• NC_000011.10:g.17509369G>A
• NG_011883.2:g.40048C>T
• NM_001297764.2:c.1228-7389C>T
• NM_005709.4:c.1285-7389C>T
• NM_153676.4:c.2000C>TMANE SELECT
• NP_710142.1:p.Pro667Leu
• NC_000011.9:g.17530916G>A
• NG_011883.1:g.40048C>T
• NM_153676.3:c.2000C>T
• p.Pro667Leu

This HGVS expression did not pass validation

Protein change:

P667L

Links:

dbSNP: rs1157049229

NCBI 1000 Genomes Browser:

rs1157049229

Molecular consequence:

• NM_001297764.2:c.1228-7389C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_005709.4:c.1285-7389C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_153676.4:c.2000C>T - missense variant - [Sequence Ontology: SO:0001583]