ClinVar

NM_001378452.1(ITPR1):c.4254G>T (p.Val1418=)

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: 4693714 (on Assembly GRCh38)
• Chr3: 4735398 (on Assembly GRCh37)

Preferred name:

NM_001378452.1(ITPR1):c.4254G>T (p.Val1418=)

HGVS:

• NC_000003.12:g.4693714G>T
• NG_016144.1:g.205367G>T
• NM_001099952.4:c.4227G>T
• NM_001168272.2:c.4209G>T
• NM_001378452.1:c.4254G>TMANE SELECT
• NM_002222.7:c.4182G>T
• NP_001093422.2:p.Val1409=
• NP_001161744.1:p.Val1403=
• NP_001161744.1:p.Val1403=
• NP_001365381.1:p.Val1418=
• NP_002213.5:p.Val1394=
• NC_000003.11:g.4735398G>T
• NM_001168272.1:c.4209G>T
• NM_002222.5:c.4182G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs142527379

NCBI 1000 Genomes Browser:

rs142527379

Molecular consequence:

• NM_001099952.4:c.4227G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001168272.2:c.4209G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001378452.1:c.4254G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002222.7:c.4182G>T - synonymous variant - [Sequence Ontology: SO:0001819]