ClinVar

NM_002860.4(ALDH18A1):c.551C>T (p.Ala184Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q24.1

Genomic location:

• Chr10: 95637100 (on Assembly GRCh38)
• Chr10: 97396857 (on Assembly GRCh37)

Preferred name:

NM_002860.4(ALDH18A1):c.551C>T (p.Ala184Val)

HGVS:

• NC_000010.11:g.95637100G>A
• NG_012258.1:g.24711C>T
• NM_001017423.2:c.551C>T
• NM_001323412.2:c.218C>T
• NM_001323413.2:c.551C>T
• NM_001323414.2:c.551C>T
• NM_001323415.2:c.551C>T
• NM_001323416.2:c.218C>T
• NM_001323417.2:c.453+187C>T
• NM_001323418.2:c.218C>T
• NM_001323419.2:c.-78-3451C>T
• NM_002860.4:c.551C>TMANE SELECT
• NP_001017423.1:p.Ala184Val
• NP_001310341.1:p.Ala73Val
• NP_001310342.1:p.Ala184Val
• NP_001310343.1:p.Ala184Val
• NP_001310344.1:p.Ala184Val
• NP_001310345.1:p.Ala73Val
• NP_001310347.1:p.Ala73Val
• NP_002851.2:p.Ala184Val
• NC_000010.10:g.97396857G>A
• NM_002860.3:c.551C>T

This HGVS expression did not pass validation

Protein change:

A184V

Links:

dbSNP: rs201428777

NCBI 1000 Genomes Browser:

rs201428777

Molecular consequence:

• NM_001323417.2:c.453+187C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001323419.2:c.-78-3451C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001017423.2:c.551C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323412.2:c.218C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323413.2:c.551C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323414.2:c.551C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323415.2:c.551C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323416.2:c.218C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323418.2:c.218C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002860.4:c.551C>T - missense variant - [Sequence Ontology: SO:0001583]