ClinVar

NM_002860.4(ALDH18A1):c.2140G>A (p.Val714Ile)

Gene:

ALDH18A1:aldehyde dehydrogenase 18 family member A1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q24.1

Genomic location:

• Chr10: 95610263 (on Assembly GRCh38)
• Chr10: 97370020 (on Assembly GRCh37)

Preferred name:

NM_002860.4(ALDH18A1):c.2140G>A (p.Val714Ile)

HGVS:

• NC_000010.11:g.95610263C>T
• NG_012258.1:g.51548G>A
• NM_001017423.2:c.2134G>A
• NM_001323412.2:c.1807G>A
• NM_001323413.2:c.2140G>A
• NM_001323414.2:c.2140G>A
• NM_001323415.2:c.2134G>A
• NM_001323416.2:c.1807G>A
• NM_001323417.2:c.2035G>A
• NM_001323418.2:c.1801G>A
• NM_001323419.2:c.1504G>A
• NM_002860.4:c.2140G>AMANE SELECT
• NP_001017423.1:p.Val712Ile
• NP_001310341.1:p.Val603Ile
• NP_001310342.1:p.Val714Ile
• NP_001310343.1:p.Val714Ile
• NP_001310344.1:p.Val712Ile
• NP_001310345.1:p.Val603Ile
• NP_001310346.1:p.Val679Ile
• NP_001310347.1:p.Val601Ile
• NP_001310348.1:p.Val502Ile
• NP_002851.2:p.Val714Ile
• NC_000010.10:g.97370020C>T
• NM_002860.3:c.2140G>A

This HGVS expression did not pass validation

Protein change:

V502I

Links:

dbSNP: rs756291410

NCBI 1000 Genomes Browser:

rs756291410

Molecular consequence:

• NM_001017423.2:c.2134G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323412.2:c.1807G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323413.2:c.2140G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323414.2:c.2140G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323415.2:c.2134G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323416.2:c.1807G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323417.2:c.2035G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323418.2:c.1801G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323419.2:c.1504G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002860.4:c.2140G>A - missense variant - [Sequence Ontology: SO:0001583]