ClinVar

NM_016156.6(MTMR2):c.570+11T>C

Gene:

MTMR2:myotubularin related protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q21

Genomic location:

• Chr11: 95858520 (on Assembly GRCh38)
• Chr11: 95591684 (on Assembly GRCh37)

Preferred name:

NM_016156.6(MTMR2):c.570+11T>C

HGVS:

• NC_000011.10:g.95858520A>G
• NG_008333.1:g.70688T>C
• NM_001243571.2:c.354+11T>C
• NM_016156.6:c.570+11T>CMANE SELECT
• NM_201278.3:c.354+11T>C
• NM_201281.3:c.354+11T>C
• LRG_257t1:c.570+11T>C
• LRG_257:g.70688T>C
• NC_000011.9:g.95591684A>G
• NM_001243571.1:c.354+11T>C
• NM_016156.5:c.570+11T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs182582445

NCBI 1000 Genomes Browser:

rs182582445

Molecular consequence:

• NM_001243571.2:c.354+11T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_016156.6:c.570+11T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_201278.3:c.354+11T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_201281.3:c.354+11T>C - intron variant - [Sequence Ontology: SO:0001627]