ClinVar

NM_153676.4(USH1C):c.2538C>T (p.Asp846=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 17496766 (on Assembly GRCh38)
• Chr11: 17518313 (on Assembly GRCh37)

Preferred name:

NM_153676.4(USH1C):c.2538C>T (p.Asp846=)

HGVS:

• NC_000011.10:g.17496766G>A
• NG_011883.2:g.52651C>T
• NM_001297764.2:c.1581C>T
• NM_005709.4:c.1638C>T
• NM_153676.4:c.2538C>TMANE SELECT
• NP_001284693.1:p.Asp527=
• NP_005700.2:p.Asp546=
• NP_710142.1:p.Asp846=
• NC_000011.9:g.17518313G>A
• NG_011883.1:g.52651C>T
• NM_005709.3:c.1638C>T
• NM_153676.3:c.2538C>T
• NR_123738.2:n.1673C>T
• p.Asp846Asp

This HGVS expression did not pass validation

Links:

dbSNP: rs143860238

NCBI 1000 Genomes Browser:

rs143860238

Molecular consequence:

• NR_123738.2:n.1673C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001297764.2:c.1581C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005709.4:c.1638C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_153676.4:c.2538C>T - synonymous variant - [Sequence Ontology: SO:0001819]