ClinVar

NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p13.1

Genomic location:

• Chr2: 73451515 (on Assembly GRCh38)
• Chr2: 73678642 (on Assembly GRCh37)

Preferred name:

NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile)

HGVS:

• NC_000002.12:g.73451515C>T
• NG_011690.1:g.70763C>T
• NM_001378454.1:c.4988C>TMANE SELECT
• NM_015120.4:c.4991C>T
• NP_001365383.1:p.Thr1663Ile
• NP_055935.4:p.Thr1664Ile
• LRG_741t1:c.4991C>T
• LRG_741:g.70763C>T
• LRG_741p1:p.Thr1664Ile
• NC_000002.11:g.73678642C>T
• p.Thr1662Ile

This HGVS expression did not pass validation

Protein change:

T1663I

Links:

dbSNP: rs188807564

NCBI 1000 Genomes Browser:

rs188807564

Molecular consequence:

• NM_001378454.1:c.4988C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_015120.4:c.4991C>T - missense variant - [Sequence Ontology: SO:0001583]