ClinVar

NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)

Gene:

ITPR1:inositol 1,4,5-trisphosphate receptor type 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p26.1

Genomic location:

• Chr3: 4645678 (on Assembly GRCh38)
• Chr3: 4687362 (on Assembly GRCh37)

Preferred name:

NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)

HGVS:

• NC_000003.12:g.4645678C>T
• NG_016144.1:g.157331C>T
• NM_001099952.4:c.805C>T
• NM_001168272.2:c.805C>T
• NM_001378452.1:c.805C>TMANE SELECT
• NM_002222.7:c.805C>T
• NP_001093422.2:p.Arg269Trp
• NP_001161744.1:p.Arg269Trp
• NP_001161744.1:p.Arg269Trp
• NP_001365381.1:p.Arg269Trp
• NP_002213.5:p.Arg269Trp
• NC_000003.11:g.4687362C>T
• NM_001168272.1:c.805C>T
• NM_001378452.1:c.805C>T
• NM_002222.5:c.805C>T
• p.Arg269Trp

This HGVS expression did not pass validation

Protein change:

R269W

Links:

dbSNP: rs886039392

NCBI 1000 Genomes Browser:

rs886039392

Molecular consequence:

• NM_001099952.4:c.805C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001168272.2:c.805C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378452.1:c.805C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002222.7:c.805C>T - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

loss_of_function_variant [Sequence Ontology: SO:0002054]