ClinVar

NM_000382.3(ALDH3A2):c.1401G>A (p.Leu467=)

Gene:

ALDH3A2:aldehyde dehydrogenase 3 family member A2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p11.2

Genomic location:

• Chr17: 19671914 (on Assembly GRCh38)
• Chr17: 19575227 (on Assembly GRCh37)

Preferred name:

NM_000382.3(ALDH3A2):c.1401G>A (p.Leu467=)

HGVS:

• NC_000017.11:g.19671914G>A
• NG_007095.2:g.28164G>A
• NM_000382.3:c.1401G>AMANE SELECT
• NM_001031806.2:c.1401G>A
• NM_001369136.1:c.1401G>A
• NM_001369137.2:c.1401G>A
• NM_001369138.2:c.1401G>A
• NM_001369139.1:c.1401G>A
• NM_001369146.2:c.1208-3644G>A
• NM_001369148.2:c.822G>A
• NP_000373.1:p.Leu467=
• NP_001026976.1:p.Leu467=
• NP_001356065.1:p.Leu467=
• NP_001356066.1:p.Leu467=
• NP_001356067.1:p.Leu467=
• NP_001356068.1:p.Leu467=
• NP_001356077.1:p.Leu274=
• NC_000017.10:g.19575227G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001369146.2:c.1208-3644G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000382.3:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001031806.2:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369136.1:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369137.2:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369138.2:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369139.1:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369148.2:c.822G>A - synonymous variant - [Sequence Ontology: SO:0001819]