ClinVar

NM_001698.3(AUH):c.140C>T (p.Pro47Leu)

Genes:

LOC130002059:ATAC-STARR-seq lymphoblastoid silent region 20025 [Gene]
AUH:AU RNA binding methylglutaconyl-CoA hydratase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.31

Genomic location:

• Chr9: 91361750 (on Assembly GRCh38)
• Chr9: 94124032 (on Assembly GRCh37)

Preferred name:

NM_001698.3(AUH):c.140C>T (p.Pro47Leu)

HGVS:

• NC_000009.12:g.91361750G>A
• NG_008017.1:g.5175C>T
• NM_001306190.2:c.140C>T
• NM_001351431.2:c.-258C>T
• NM_001351432.2:c.-350C>T
• NM_001351433.2:c.-258C>T
• NM_001698.3:c.140C>TMANE SELECT
• NP_001293119.1:p.Pro47Leu
• NP_001689.1:p.Pro47Leu
• LRG_449t1:c.140C>T
• LRG_449:g.5175C>T
• NC_000009.11:g.94124032G>A
• NM_001698.2:c.140C>T

This HGVS expression did not pass validation

Protein change:

P47L

Links:

dbSNP: rs200564356

NCBI 1000 Genomes Browser:

rs200564356

Molecular consequence:

• NM_001351431.2:c.-258C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001351432.2:c.-350C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001351433.2:c.-258C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001306190.2:c.140C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001698.3:c.140C>T - missense variant - [Sequence Ontology: SO:0001583]