ClinVar

NM_014324.6(AMACR):c.739+15C>T

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: 33998626 (on Assembly GRCh38)
• Chr5: 33998731 (on Assembly GRCh37)

Preferred name:

NM_014324.6(AMACR):c.739+15C>T

HGVS:

• NC_000005.10:g.33998626G>A
• NG_016211.1:g.14490C>T
• NM_001167595.2:c.739+15C>T
• NM_014324.6:c.739+15C>TMANE SELECT
• NM_203382.3:c.578+15C>T
• NC_000005.9:g.33998731G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs537833252

NCBI 1000 Genomes Browser:

rs537833252

Molecular consequence:

• NM_001167595.2:c.739+15C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_014324.6:c.739+15C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_203382.3:c.578+15C>T - intron variant - [Sequence Ontology: SO:0001627]