ClinVar

NM_001172477.1(RRM2B):c.538-2A>C

Gene:

RRM2B:ribonucleotide reductase regulatory TP53 inducible subunit M2B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q22.3

Genomic location:

• Chr8: 102225020 (on Assembly GRCh38)
• Chr8: 103237248 (on Assembly GRCh37)

Preferred name:

NM_001172477.1(RRM2B):c.538-2A>C

Other names:

IVS3-2A>C

HGVS:

• NC_000008.11:g.102225020T>G
• NG_016617.1:g.19099A>C
• NM_001172477.1:c.538-2A>C
• NM_001172478.2:c.166-2A>C
• NM_015713.4:c.322-2A>C
• LRG_788t1:c.538-2A>C
• LRG_788t2:c.322-2A>C
• LRG_788:g.19099A>C
• NC_000008.10:g.103237248T>G

This HGVS expression did not pass validation

Links:

dbSNP: rs515726185

NCBI 1000 Genomes Browser:

rs515726185

Molecular consequence:

• NM_001172477.1:c.538-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001172478.2:c.166-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_015713.4:c.322-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]