ClinVar

NM_001378452.1(ITPR1):c.6206A>G (p.Asn2069Ser)

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: 4777289 (on Assembly GRCh38)
• Chr3: 4818973 (on Assembly GRCh37)

Preferred name:

NM_001378452.1(ITPR1):c.6206A>G (p.Asn2069Ser)

HGVS:

• NC_000003.12:g.4777289A>G
• NG_016144.1:g.288942A>G
• NM_001099952.4:c.6062A>G
• NM_001168272.2:c.6161A>G
• NM_001378452.1:c.6206A>GMANE SELECT
• NM_002222.7:c.6017A>G
• NP_001093422.2:p.Asn2021Ser
• NP_001161744.1:p.Asn2054Ser
• NP_001365381.1:p.Asn2069Ser
• NP_002213.5:p.Asn2006Ser
• NC_000003.11:g.4818973A>G

This HGVS expression did not pass validation

Protein change:

N2006S

Links:

dbSNP: rs1360324926

NCBI 1000 Genomes Browser:

rs1360324926

Molecular consequence:

• NM_001099952.4:c.6062A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001168272.2:c.6161A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378452.1:c.6206A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_002222.7:c.6017A>G - missense variant - [Sequence Ontology: SO:0001583]