ClinVar

NM_005591.4(MRE11):c.1897C>T (p.Arg633Ter)

Gene:

MRE11:MRE11 homolog, double strand break repair nuclease [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q21

Genomic location:

• Chr11: 94437206 (on Assembly GRCh38)
• Chr11: 94170372 (on Assembly GRCh37)

Preferred name:

NM_005591.4(MRE11):c.1897C>T (p.Arg633Ter)

HGVS:

• NC_000011.10:g.94437206G>A
• NG_007261.1:g.61669C>T
• NM_001330347.2:c.1894C>T
• NM_005590.4:c.1813C>T
• NM_005591.4:c.1897C>TMANE SELECT
• NP_001317276.1:p.Arg632Ter
• NP_005581.2:p.Arg605Ter
• NP_005582.1:p.Arg633Ter
• NP_005582.1:p.Arg633Ter
• LRG_85t1:c.1897C>T
• LRG_85:g.61669C>T
• LRG_85p1:p.Arg633Ter
• NC_000011.9:g.94170372G>A
• NM_005591.3:c.1897C>T

This HGVS expression did not pass validation

Protein change:

R605*; ARG633TER

Links:

OMIM: 600814.0001; dbSNP: rs137852759

NCBI 1000 Genomes Browser:

rs137852759

Molecular consequence:

• NM_001330347.2:c.1894C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_005590.4:c.1813C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_005591.4:c.1897C>T - nonsense - [Sequence Ontology: SO:0001587]