ClinVar

NM_002485.5(NBN):c.1563C>T (p.Asn521=)

Gene:

NBN:nibrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q21.3

Genomic location:

• Chr8: 89953526 (on Assembly GRCh38)
• Chr8: 90965754 (on Assembly GRCh37)

Preferred name:

NM_002485.5(NBN):c.1563C>T (p.Asn521=)

HGVS:

• NC_000008.11:g.89953526G>A
• NG_008860.1:g.36146C>T
• NM_001024688.3:c.1317C>T
• NM_002485.5:c.1563C>TMANE SELECT
• NP_001019859.1:p.Asn439=
• NP_002476.2:p.Asn521=
• NP_002476.2:p.Asn521=
• LRG_158t1:c.1563C>T
• LRG_158:g.36146C>T
• LRG_158p1:p.Asn521=
• NC_000008.10:g.90965754G>A
• NM_002485.4:c.1563C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs765959451

NCBI 1000 Genomes Browser:

rs765959451

Molecular consequence:

• NM_001024688.3:c.1317C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002485.5:c.1563C>T - synonymous variant - [Sequence Ontology: SO:0001819]