ClinVar

NM_001378454.1(ALMS1):c.12284C>T (p.Pro4095Leu)

Genes:

ALMS1:ALMS1 centrosome and basal body associated protein [Gene - OMIM - HGNC]
LOC126806252:BRD4-independent group 4 enhancer GRCh37_chr2:73828496-73829695 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

2p13.1

Genomic location:

• Chr2: 73602354 (on Assembly GRCh38)
• Chr2: 73829481 (on Assembly GRCh37)

Preferred name:

NM_001378454.1(ALMS1):c.12284C>T (p.Pro4095Leu)

HGVS:

• NC_000002.12:g.73602354C>T
• NG_011690.1:g.221602C>T
• NM_001378454.1:c.12284C>TMANE SELECT
• NM_015120.4:c.12287C>T
• NP_001365383.1:p.Pro4095Leu
• NP_055935.4:p.Pro4096Leu
• LRG_741t1:c.12287C>T
• LRG_741:g.221602C>T
• LRG_741p1:p.Pro4096Leu
• NC_000002.11:g.73829481C>T

This HGVS expression did not pass validation

Protein change:

P4095L

Links:

dbSNP: rs750502331

NCBI 1000 Genomes Browser:

rs750502331

Molecular consequence:

• NM_001378454.1:c.12284C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_015120.4:c.12287C>T - missense variant - [Sequence Ontology: SO:0001583]