ClinVar

NM_001080.3(ALDH5A1):c.183C>G (p.Thr61=)

Genes:

LOC129995978:ATAC-STARR-seq lymphoblastoid silent region 16989 [Gene]
ALDH5A1:aldehyde dehydrogenase 5 family member A1 [Gene - OMIM - HGNC]
GPLD1:glycosylphosphatidylinositol specific phospholipase D1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p22.3

Genomic location:

• Chr6: 24495179 (on Assembly GRCh38)
• Chr6: 24495407 (on Assembly GRCh37)

Preferred name:

NM_001080.3(ALDH5A1):c.183C>G (p.Thr61=)

HGVS:

• NC_000006.12:g.24495179C>G
• NG_008161.1:g.5211C>G
• NM_001080.3:c.183C>GMANE SELECT
• NM_001368954.1:c.183C>G
• NM_170740.1:c.183C>G
• NP_001071.1:p.Thr61=
• NP_001355883.1:p.Thr61=
• NP_733936.1:p.Thr61=
• NC_000006.11:g.24495407C>G

This HGVS expression did not pass validation

Links:

dbSNP: rs776791710

NCBI 1000 Genomes Browser:

rs776791710

Molecular consequence:

• NM_001080.3:c.183C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001368954.1:c.183C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_170740.1:c.183C>G - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1