ClinVar

NM_001182.5(ALDH7A1):c.*325A>G

Gene:

ALDH7A1:aldehyde dehydrogenase 7 family member A1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q23.2

Genomic location:

• Chr5: 126544640 (on Assembly GRCh38)
• Chr5: 125880332 (on Assembly GRCh37)

Preferred name:

NM_001182.5(ALDH7A1):c.*325A>G

HGVS:

• NC_000005.10:g.126544640T>C
• NG_008600.3:g.55751A>G
• NM_001182.5:c.*325A>GMANE SELECT
• NM_001201377.2:c.*325A>G
• NM_001202404.2:c.*325A>G
• NC_000005.9:g.125880332T>C
• NG_008600.2:g.55751A>G
• NM_001182.4:c.*325A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs55923017

NCBI 1000 Genomes Browser:

rs55923017

Molecular consequence:

• NM_001182.5:c.*325A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001201377.2:c.*325A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001202404.2:c.*325A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Observations:

1