ClinVar

NM_001182.5(ALDH7A1):c.553G>A (p.Val185Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q23.2

Genomic location:

• Chr5: 126577176 (on Assembly GRCh38)
• Chr5: 125912868 (on Assembly GRCh37)

Preferred name:

NM_001182.5(ALDH7A1):c.553G>A (p.Val185Ile)

Other names:

p.V185I:GTA>ATA

HGVS:

• NC_000005.10:g.126577176C>T
• NG_008600.2:g.23215G>A
• NM_001182.5:c.553G>AMANE SELECT
• NM_001201377.2:c.469G>A
• NM_001202404.2:c.553G>A
• NP_001173.2:p.Val185Ile
• NP_001188306.1:p.Val157Ile
• NP_001189333.2:p.Val185Ile
• NC_000005.9:g.125912868C>T
• NM_001182.4:c.553G>A

This HGVS expression did not pass validation

Protein change:

V157I

Links:

dbSNP: rs61757685

NCBI 1000 Genomes Browser:

rs61757685

Molecular consequence:

• NM_001182.5:c.553G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001201377.2:c.469G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001202404.2:c.553G>A - missense variant - [Sequence Ontology: SO:0001583]