ClinVar

NM_000179.3(MSH6):c.3557-40T>A

Gene:

MSH6:mutS homolog 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47805578 (on Assembly GRCh38)
• Chr2: 48032717 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.3557-40T>A

HGVS:

• NC_000002.12:g.47805578T>A
• NG_007111.1:g.27432T>A
• NG_008397.1:g.105098A>T
• NM_000179.3:c.3557-40T>AMANE SELECT
• NM_001281492.2:c.3167-40T>A
• NM_001281493.2:c.2651-40T>A
• NM_001281494.2:c.2651-40T>A
• LRG_219t1:c.3557-40T>A
• LRG_219:g.27432T>A
• NC_000002.11:g.48032717T>A
• NM_000179.2:c.3557-40T>A

This HGVS expression did not pass validation

Links:

dbSNP: rs189436849

NCBI 1000 Genomes Browser:

rs189436849

Molecular consequence:

• NM_000179.3:c.3557-40T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001281492.2:c.3167-40T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001281493.2:c.2651-40T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001281494.2:c.2651-40T>A - intron variant - [Sequence Ontology: SO:0001627]