ClinVar

NM_002485.5(NBN):c.835C>G (p.Gln279Glu)

Gene:

NBN:nibrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q21.3

Genomic location:

• Chr8: 89970425 (on Assembly GRCh38)
• Chr8: 90982653 (on Assembly GRCh37)

Preferred name:

NM_002485.5(NBN):c.835C>G (p.Gln279Glu)

HGVS:

• NC_000008.11:g.89970425G>C
• NG_008860.1:g.19247C>G
• NM_001024688.3:c.589C>G
• NM_002485.5:c.835C>GMANE SELECT
• NP_001019859.1:p.Gln197Glu
• NP_002476.2:p.Gln279Glu
• NP_002476.2:p.Gln279Glu
• LRG_158t1:c.835C>G
• LRG_158:g.19247C>G
• LRG_158p1:p.Gln279Glu
• NC_000008.10:g.90982653G>C
• NM_002485.4:c.835C>G

This HGVS expression did not pass validation

Protein change:

Q197E

Links:

dbSNP: rs1586086585

NCBI 1000 Genomes Browser:

rs1586086585

Molecular consequence:

• NM_001024688.3:c.589C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_002485.5:c.835C>G - missense variant - [Sequence Ontology: SO:0001583]