ClinVar

NM_014324.6(AMACR):c.90T>G (p.Arg30=)

Genes:

C1QTNF3-AMACR:C1QTNF3-AMACR readthrough (NMD candidate) [Gene - HGNC]
AMACR:alpha-methylacyl-CoA racemase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5p13.2

Genomic location:

• Chr5: 34007930 (on Assembly GRCh38)
• Chr5: 34008035 (on Assembly GRCh37)

Preferred name:

NM_014324.6(AMACR):c.90T>G (p.Arg30=)

HGVS:

• NC_000005.10:g.34007930A>C
• NG_016211.1:g.5186T>G
• NM_001167595.2:c.90T>G
• NM_014324.6:c.90T>GMANE SELECT
• NM_203382.3:c.90T>G
• NP_001161067.1:p.Arg30=
• NP_055139.4:p.Arg30=
• NP_976316.1:p.Arg30=
• NC_000005.9:g.34008035A>C
• NM_014324.5:c.90T>G

This HGVS expression did not pass validation

Links:

dbSNP: rs769780647

NCBI 1000 Genomes Browser:

rs769780647

Molecular consequence:

• NM_001167595.2:c.90T>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_014324.6:c.90T>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_203382.3:c.90T>G - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1