ClinVar

NM_001698.3(AUH):c.807G>A (p.Arg269=)

Gene:

AUH:AU RNA binding methylglutaconyl-CoA hydratase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.31

Genomic location:

• Chr9: 91220841 (on Assembly GRCh38)
• Chr9: 93983123 (on Assembly GRCh37)

Preferred name:

NM_001698.3(AUH):c.807G>A (p.Arg269=)

HGVS:

• NC_000009.12:g.91220841C>T
• NG_008017.1:g.146084G>A
• NM_001306190.2:c.720G>A
• NM_001351431.2:c.480G>A
• NM_001351432.2:c.480G>A
• NM_001351433.2:c.480G>A
• NM_001698.3:c.807G>AMANE SELECT
• NP_001293119.1:p.Arg240=
• NP_001338360.1:p.Arg160=
• NP_001338361.1:p.Arg160=
• NP_001338362.1:p.Arg160=
• NP_001689.1:p.Arg269=
• NP_001689.1:p.Arg269=
• LRG_449t1:c.807G>A
• LRG_449:g.146084G>A
• LRG_449p1:p.Arg269=
• NC_000009.11:g.93983123C>T
• NM_001698.2:c.807G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs145208407

NCBI 1000 Genomes Browser:

rs145208407

Molecular consequence:

• NM_001306190.2:c.720G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351431.2:c.480G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351432.2:c.480G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351433.2:c.480G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001698.3:c.807G>A - synonymous variant - [Sequence Ontology: SO:0001819]