ClinVar

NM_000637.5(GSR):c.189C>T (p.Ala63=)

Genes:

LOC130000170:ATAC-STARR-seq lymphoblastoid silent region 19083 [Gene]
GSR:glutathione-disulfide reductase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p12

Genomic location:

• Chr8: 30727647 (on Assembly GRCh38)
• Chr8: 30585164 (on Assembly GRCh37)

Preferred name:

NM_000637.5(GSR):c.189C>T (p.Ala63=)

HGVS:

• NC_000008.11:g.30727647G>A
• NG_027719.1:g.5323C>T
• NM_000637.5:c.189C>TMANE SELECT
• NM_001195102.3:c.189C>T
• NM_001195103.3:c.189C>T
• NM_001195104.3:c.189C>T
• NP_000628.2:p.Ala63=
• NP_001182031.1:p.Ala63=
• NP_001182032.1:p.Ala63=
• NP_001182033.1:p.Ala63=
• LRG_1167t1:c.189C>T
• LRG_1167:g.5323C>T
• LRG_1167p1:p.Ala63=
• NC_000008.10:g.30585164G>A
• NM_000637.3:c.189C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2280854

NCBI 1000 Genomes Browser:

rs2280854

Molecular consequence:

• NM_000637.5:c.189C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195102.3:c.189C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195103.3:c.189C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195104.3:c.189C>T - synonymous variant - [Sequence Ontology: SO:0001819]