ClinVar

NM_134424.4(RAD52):c.*315T>A

Gene:

RAD52:RAD52 homolog, DNA repair protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.33

Genomic location:

• Chr12: 913076 (on Assembly GRCh38)
• Chr12: 1022242 (on Assembly GRCh37)
• Chr12: 892503 (on Assembly NCBI36)

Preferred name:

NM_134424.4(RAD52):c.*315T>A

HGVS:

• NC_000012.12:g.913076A>T
• NG_007984.3:g.165018A>T
• NG_017078.2:g.81966T>A
• NM_001297419.1:c.*315T>A
• NM_001297421.2:c.*315T>A
• NM_134424.4:c.*315T>AMANE SELECT
• LRG_247:g.165018A>T
• NC_000012.10:g.892503A>T
• NC_000012.11:g.1022242A>T
• NR_123713.2:n.1965T>A

This HGVS expression did not pass validation

Links:

dbSNP: rs104895067

NCBI 1000 Genomes Browser:

rs104895067

Molecular consequence:

• NM_001297419.1:c.*315T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001297421.2:c.*315T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_134424.4:c.*315T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NR_123713.2:n.1965T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]