ClinVar

NM_002485.5(NBN):c.37+11A>G

Gene:

NBN:nibrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q21.3

Genomic location:

• Chr8: 89984514 (on Assembly GRCh38)
• Chr8: 90996742 (on Assembly GRCh37)

Preferred name:

NM_002485.5(NBN):c.37+11A>G

HGVS:

• NC_000008.11:g.89984514T>C
• NG_008860.1:g.5158A>G
• NM_001024688.3:c.-260+11A>G
• NM_002485.5:c.37+11A>GMANE SELECT
• LRG_158t1:c.37+11A>G
• LRG_158:g.5158A>G
• NC_000008.10:g.90996742T>C
• NM_002485.4:c.37+11A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs115032431

NCBI 1000 Genomes Browser:

rs115032431

Molecular consequence:

• NM_001024688.3:c.-260+11A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_002485.5:c.37+11A>G - intron variant - [Sequence Ontology: SO:0001627]