ClinVar

NM_002485.5(NBN):c.896+167G>A

Gene:

NBN:nibrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q21.3

Genomic location:

• Chr8: 89970197 (on Assembly GRCh38)
• Chr8: 90982425 (on Assembly GRCh37)

Preferred name:

NM_002485.5(NBN):c.896+167G>A

HGVS:

• NC_000008.11:g.89970197C>T
• NG_008860.1:g.19475G>A
• NM_001024688.3:c.650+167G>A
• NM_002485.5:c.896+167G>AMANE SELECT
• LRG_158:g.19475G>A
• NC_000008.10:g.90982425C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs138144058

NCBI 1000 Genomes Browser:

rs138144058

Molecular consequence:

• NM_001024688.3:c.650+167G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_002485.5:c.896+167G>A - intron variant - [Sequence Ontology: SO:0001627]