ClinVar

NM_005591.4(MRE11):c.1225+804T>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q21

Genomic location:

• Chr11: 94463309 (on Assembly GRCh38)
• Chr11: 94196475 (on Assembly GRCh37)

Preferred name:

NM_005591.4(MRE11):c.1225+804T>C

HGVS:

• NC_000011.10:g.94463309A>G
• NG_007261.1:g.35566T>C
• NM_001330347.2:c.1225+804T>C
• NM_005590.4:c.1225+804T>C
• NM_005591.4:c.1225+804T>CMANE SELECT
• LRG_85:g.35566T>C
• NC_000011.9:g.94196475A>G
• NM_005590.3:c.1225+804T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs397509356

NCBI 1000 Genomes Browser:

rs397509356

Molecular consequence:

• NM_001330347.2:c.1225+804T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_005590.4:c.1225+804T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_005591.4:c.1225+804T>C - intron variant - [Sequence Ontology: SO:0001627]