ClinVar

NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg)

Genes:

LOC126806590:MED14-independent group 3 enhancer GRCh37_chr3:4855759-4856958 [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: 4814509 (on Assembly GRCh38)
• Chr3: 4856193 (on Assembly GRCh37)

Preferred name:

NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg)

HGVS:

• NC_000003.12:g.4814509G>A
• NG_016144.1:g.326162G>A
• NM_001099952.4:c.7504G>A
• NM_001168272.2:c.7603G>A
• NM_001378452.1:c.7648G>AMANE SELECT
• NM_002222.7:c.7459G>A
• NP_001093422.2:p.Gly2502Arg
• NP_001161744.1:p.Gly2535Arg
• NP_001161744.1:p.Gly2535Arg
• NP_001365381.1:p.Gly2550Arg
• NP_002213.5:p.Gly2487Arg
• NC_000003.11:g.4856193G>A
• NM_001168272.1:c.7603G>A
• NM_002222.5:c.7459G>A

This HGVS expression did not pass validation

Protein change:

G2487R

Links:

dbSNP: rs1553757628

NCBI 1000 Genomes Browser:

rs1553757628

Molecular consequence:

• NM_001099952.4:c.7504G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001168272.2:c.7603G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378452.1:c.7648G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002222.7:c.7459G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1