ClinVar

NM_001378454.1(ALMS1):c.7846C>T (p.Arg2616Trp)

Gene:

ALMS1:ALMS1 centrosome and basal body associated protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p13.1

Genomic location:

• Chr2: 73489805 (on Assembly GRCh38)
• Chr2: 73716932 (on Assembly GRCh37)

Preferred name:

NM_001378454.1(ALMS1):c.7846C>T (p.Arg2616Trp)

HGVS:

• NC_000002.12:g.73489805C>T
• NG_011690.1:g.109053C>T
• NM_001378454.1:c.7846C>TMANE SELECT
• NM_015120.4:c.7849C>T
• NP_001365383.1:p.Arg2616Trp
• NP_055935.4:p.Arg2617Trp
• LRG_741t1:c.7849C>T
• LRG_741:g.109053C>T
• LRG_741p1:p.Arg2617Trp
• NC_000002.11:g.73716932C>T
• NC_000002.11:g.73716932C>T
• NM_001378454.1:c.7846C>T

This HGVS expression did not pass validation

Protein change:

R2616W

Links:

dbSNP: rs145383239

NCBI 1000 Genomes Browser:

rs145383239

Molecular consequence:

• NM_001378454.1:c.7846C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_015120.4:c.7849C>T - missense variant - [Sequence Ontology: SO:0001583]