ClinVar

NM_005866.4(SIGMAR1):c.92G>A (p.Gly31Asp)

Genes:

LOC130001681:ATAC-STARR-seq lymphoblastoid silent region 19853 [Gene]
SIGMAR1:sigma non-opioid intracellular receptor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p13.3

Genomic location:

• Chr9: 34637606 (on Assembly GRCh38)
• Chr9: 34637603 (on Assembly GRCh37)

Preferred name:

NM_005866.4(SIGMAR1):c.92G>A (p.Gly31Asp)

HGVS:

• NC_000009.12:g.34637606C>T
• NG_029945.2:g.5166G>A
• NG_181127.1:g.170C>T
• NM_001282205.2:c.92G>A
• NM_001282206.2:c.-162G>A
• NM_001282207.2:c.91+1G>A
• NM_001282208.2:c.92G>A
• NM_001282209.2:c.92G>A
• NM_005866.4:c.92G>AMANE SELECT
• NM_147157.3:c.92G>A
• NP_001269134.1:p.Gly31Asp
• NP_001269137.1:p.Gly31Asp
• NP_001269138.1:p.Gly31Asp
• NP_005857.1:p.Gly31Asp
• NP_671513.1:p.Gly31Asp
• NC_000009.11:g.34637603C>T
• NM_005866.2:c.92G>A
• NM_005866.3:c.92G>A
• NR_104108.2:n.182G>A

This HGVS expression did not pass validation

Protein change:

G31D

Links:

dbSNP: rs532632647

NCBI 1000 Genomes Browser:

rs532632647

Molecular consequence:

• NM_001282206.2:c.-162G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001282205.2:c.92G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282208.2:c.92G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282209.2:c.92G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005866.4:c.92G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_147157.3:c.92G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_104108.2:n.182G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001282207.2:c.91+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

1