ClinVar

NM_000382.3(ALDH3A2):c.1233C>T (p.His411=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p11.2

Genomic location:

• Chr17: 19671746 (on Assembly GRCh38)
• Chr17: 19575059 (on Assembly GRCh37)

Preferred name:

NM_000382.3(ALDH3A2):c.1233C>T (p.His411=)

HGVS:

• NC_000017.11:g.19671746C>T
• NG_007095.2:g.27996C>T
• NM_000382.3:c.1233C>TMANE SELECT
• NM_001031806.2:c.1233C>T
• NM_001369136.1:c.1233C>T
• NM_001369137.2:c.1233C>T
• NM_001369138.2:c.1233C>T
• NM_001369139.1:c.1233C>T
• NM_001369146.2:c.1208-3812C>T
• NM_001369148.2:c.654C>T
• NP_000373.1:p.His411=
• NP_001026976.1:p.His411=
• NP_001356065.1:p.His411=
• NP_001356066.1:p.His411=
• NP_001356067.1:p.His411=
• NP_001356068.1:p.His411=
• NP_001356077.1:p.His218=
• NC_000017.10:g.19575059C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs148427967

NCBI 1000 Genomes Browser:

rs148427967

Molecular consequence:

• NM_001369146.2:c.1208-3812C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000382.3:c.1233C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001031806.2:c.1233C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369136.1:c.1233C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369137.2:c.1233C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369138.2:c.1233C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369139.1:c.1233C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369148.2:c.654C>T - synonymous variant - [Sequence Ontology: SO:0001819]