ClinVar

NM_001382567.1(STIM1):c.1937G>A (p.Arg646His)

Genes:

LOC124418421:Sharpr-MPRA regulatory region 9588 [Gene]
STIM1:stromal interaction molecule 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 4091584 (on Assembly GRCh38)
• Chr11: 4112814 (on Assembly GRCh37)

Preferred name:

NM_001382567.1(STIM1):c.1937G>A (p.Arg646His)

HGVS:

• NC_000011.10:g.4091584G>A
• NG_016277.1:g.240882G>A
• NG_027992.2:g.1891G>A
• NM_001277961.3:c.2162G>A
• NM_001277962.2:c.*258G>A
• NM_001382566.1:c.1940G>A
• NM_001382567.1:c.1937G>AMANE SELECT
• NM_001382568.1:c.1865G>A
• NM_001382569.1:c.1709G>A
• NM_001382570.1:c.1616G>A
• NM_001382571.1:c.1364G>A
• NM_001382575.1:c.1622G>A
• NM_001382576.1:c.1622G>A
• NM_001382577.1:c.1622G>A
• NM_001382578.1:c.*258G>A
• NM_001382579.1:c.*258G>A
• NM_001382580.1:c.*258G>A
• NM_001382581.1:c.1355G>A
• NM_003156.4:c.1844G>A
• NP_001264890.1:p.Arg721His
• NP_001369495.1:p.Arg647His
• NP_001369496.1:p.Arg646His
• NP_001369497.1:p.Arg622His
• NP_001369498.1:p.Arg570His
• NP_001369499.1:p.Arg539His
• NP_001369500.1:p.Arg455His
• NP_001369504.1:p.Arg541His
• NP_001369505.1:p.Arg541His
• NP_001369506.1:p.Arg541His
• NP_001369510.1:p.Arg452His
• NP_003147.2:p.Arg615His
• NP_003147.2:p.Arg615His
• LRG_164t1:c.1844G>A
• LRG_164:g.240882G>A
• LRG_164p1:p.Arg615His
• LRG_324:g.1891G>A
• NC_000011.9:g.4112814G>A
• NM_003156.3:c.1844G>A
• NR_168436.1:n.1768G>A
• NR_168437.1:n.2273G>A
• NR_168438.1:n.2095G>A

This HGVS expression did not pass validation

Protein change:

R452H

Links:

dbSNP: rs145197758

NCBI 1000 Genomes Browser:

rs145197758

Molecular consequence:

• NM_001277962.2:c.*258G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001382578.1:c.*258G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001382579.1:c.*258G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001382580.1:c.*258G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001277961.3:c.2162G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382566.1:c.1940G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382567.1:c.1937G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382568.1:c.1865G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382569.1:c.1709G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382570.1:c.1616G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382571.1:c.1364G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382575.1:c.1622G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382576.1:c.1622G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382577.1:c.1622G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382581.1:c.1355G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003156.4:c.1844G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_168436.1:n.1768G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_168437.1:n.2273G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_168438.1:n.2095G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]