ClinVar

NM_005591.4(MRE11):c.1671C>T (p.Asp557=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q21

Genomic location:

• Chr11: 94447331 (on Assembly GRCh38)
• Chr11: 94180497 (on Assembly GRCh37)

Preferred name:

NM_005591.4(MRE11):c.1671C>T (p.Asp557=)

HGVS:

• NC_000011.10:g.94447331G>A
• NG_007261.1:g.51544C>T
• NM_001330347.2:c.1671C>T
• NM_005590.4:c.1671C>T
• NM_005591.4:c.1671C>TMANE SELECT
• NP_001317276.1:p.Asp557=
• NP_005581.2:p.Asp557=
• NP_005582.1:p.Asp557=
• NP_005582.1:p.Asp557=
• LRG_85t1:c.1671C>T
• LRG_85:g.51544C>T
• LRG_85p1:p.Asp557=
• NC_000011.9:g.94180497G>A
• NM_005591.3:c.1671C>T
• p.D557D

This HGVS expression did not pass validation

Links:

dbSNP: rs759466399

NCBI 1000 Genomes Browser:

rs759466399

Molecular consequence:

• NM_001330347.2:c.1671C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005590.4:c.1671C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005591.4:c.1671C>T - synonymous variant - [Sequence Ontology: SO:0001819]