ClinVar

NM_005866.4(SIGMAR1):c.622C>T (p.Arg208Trp)

Gene:

SIGMAR1:sigma non-opioid intracellular receptor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p13.3

Genomic location:

• Chr9: 34635682 (on Assembly GRCh38)
• Chr9: 34635679 (on Assembly GRCh37)

Preferred name:

NM_005866.4(SIGMAR1):c.622C>T (p.Arg208Trp)

HGVS:

• NC_000009.12:g.34635682G>A
• NG_029945.2:g.7090C>T
• NM_001282205.2:c.446-42C>T
• NM_001282206.2:c.322C>T
• NM_001282207.2:c.562C>T
• NM_001282208.2:c.*165C>T
• NM_001282209.2:c.*149C>T
• NM_005866.4:c.622C>TMANE SELECT
• NM_147157.3:c.529C>T
• NP_001269135.1:p.Arg108Trp
• NP_001269136.1:p.Arg188Trp
• NP_005857.1:p.Arg208Trp
• NP_671513.1:p.Arg177Trp
• NC_000009.11:g.34635679G>A
• NM_005866.2:c.622C>T
• NM_005866.3:c.622C>T
• NR_104108.2:n.599C>T

This HGVS expression did not pass validation

Protein change:

R108W

Links:

dbSNP: rs11559048

NCBI 1000 Genomes Browser:

rs11559048

Molecular consequence:

• NM_001282208.2:c.*165C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001282209.2:c.*149C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001282205.2:c.446-42C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282206.2:c.322C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282207.2:c.562C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005866.4:c.622C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_147157.3:c.529C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_104108.2:n.599C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]