ClinVar

NM_002485.5(NBN):c.819A>T (p.Thr273=)

Gene:

NBN:nibrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q21.3

Genomic location:

• Chr8: 89970441 (on Assembly GRCh38)
• Chr8: 90982669 (on Assembly GRCh37)

Preferred name:

NM_002485.5(NBN):c.819A>T (p.Thr273=)

HGVS:

• NC_000008.11:g.89970441T>A
• NG_008860.1:g.19231A>T
• NM_001024688.3:c.573A>T
• NM_002485.5:c.819A>TMANE SELECT
• NP_001019859.1:p.Thr191=
• NP_002476.2:p.Thr273=
• NP_002476.2:p.Thr273=
• LRG_158t1:c.819A>T
• LRG_158:g.19231A>T
• LRG_158p1:p.Thr273=
• NC_000008.10:g.90982669T>A
• NM_002485.4:c.819A>T
• p.T273T

This HGVS expression did not pass validation

Links:

dbSNP: rs147660518

NCBI 1000 Genomes Browser:

rs147660518

Molecular consequence:

• NM_001024688.3:c.573A>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002485.5:c.819A>T - synonymous variant - [Sequence Ontology: SO:0001819]