ClinVar

NM_001382567.1(STIM1):c.1296G>T (p.Gln432His)

Gene:

STIM1:stromal interaction molecule 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 4083320 (on Assembly GRCh38)
• Chr11: 4104550 (on Assembly GRCh37)

Preferred name:

NM_001382567.1(STIM1):c.1296G>T (p.Gln432His)

HGVS:

• NC_000011.10:g.4083320G>T
• NG_016277.1:g.232618G>T
• NM_001277961.3:c.1296G>T
• NM_001277962.2:c.1296G>T
• NM_001382566.1:c.1074G>T
• NM_001382567.1:c.1296G>TMANE SELECT
• NM_001382568.1:c.1317G>T
• NM_001382569.1:c.1161G>T
• NM_001382570.1:c.1068G>T
• NM_001382571.1:c.816G>T
• NM_001382573.1:c.1074G>T
• NM_001382575.1:c.1074G>T
• NM_001382576.1:c.1074G>T
• NM_001382577.1:c.1074G>T
• NM_001382578.1:c.1074G>T
• NM_001382579.1:c.1074G>T
• NM_001382580.1:c.807G>T
• NM_001382581.1:c.807G>T
• NM_003156.4:c.1296G>T
• NP_001264890.1:p.Gln432His
• NP_001264891.1:p.Gln432His
• NP_001369495.1:p.Gln358His
• NP_001369496.1:p.Gln432His
• NP_001369497.1:p.Gln439His
• NP_001369498.1:p.Gln387His
• NP_001369499.1:p.Gln356His
• NP_001369500.1:p.Gln272His
• NP_001369502.1:p.Gln358His
• NP_001369504.1:p.Gln358His
• NP_001369505.1:p.Gln358His
• NP_001369506.1:p.Gln358His
• NP_001369507.1:p.Gln358His
• NP_001369508.1:p.Gln358His
• NP_001369509.1:p.Gln269His
• NP_001369510.1:p.Gln269His
• NP_003147.2:p.Gln432His
• LRG_164:g.232618G>T
• NC_000011.9:g.4104550G>T
• NM_001277961.1:c.1296G>T
• NR_168437.1:n.1725G>T
• NR_168438.1:n.1547G>T

This HGVS expression did not pass validation

Protein change:

Q269H

Links:

dbSNP: rs2133226066

NCBI 1000 Genomes Browser:

rs2133226066

Molecular consequence:

• NM_001277961.3:c.1296G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001277962.2:c.1296G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382566.1:c.1074G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382567.1:c.1296G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382568.1:c.1317G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382569.1:c.1161G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382570.1:c.1068G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382571.1:c.816G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382573.1:c.1074G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382575.1:c.1074G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382576.1:c.1074G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382577.1:c.1074G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382578.1:c.1074G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382579.1:c.1074G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382580.1:c.807G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382581.1:c.807G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003156.4:c.1296G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_168437.1:n.1725G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_168438.1:n.1547G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]