ClinVar

NM_003748.4(ALDH4A1):c.1505G>A (p.Gly502Asp)

Gene:

ALDH4A1:aldehyde dehydrogenase 4 family member A1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.13

Genomic location:

• Chr1: 18874537 (on Assembly GRCh38)
• Chr1: 19201031 (on Assembly GRCh37)

Preferred name:

NM_003748.4(ALDH4A1):c.1505G>A (p.Gly502Asp)

HGVS:

• NC_000001.11:g.18874537C>T
• NG_012283.1:g.33263G>A
• NM_001161504.2:c.1325G>A
• NM_001319218.2:c.1352G>A
• NM_003748.4:c.1505G>AMANE SELECT
• NM_170726.3:c.1505G>A
• NP_001154976.1:p.Gly442Asp
• NP_001306147.1:p.Gly451Asp
• NP_003739.2:p.Gly502Asp
• NP_733844.1:p.Gly502Asp
• NC_000001.10:g.19201031C>T
• NM_003748.3:c.1505G>A

This HGVS expression did not pass validation

Protein change:

G442D

Molecular consequence:

• NM_001161504.2:c.1325G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319218.2:c.1352G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003748.4:c.1505G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_170726.3:c.1505G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1