ClinVar

NM_000179.3(MSH6):c.3807C>T (p.Cys1269=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47806457 (on Assembly GRCh38)
• Chr2: 48033596 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.3807C>T (p.Cys1269=)

HGVS:

• NC_000002.12:g.47806457C>T
• NG_007111.1:g.28311C>T
• NG_008397.1:g.104219G>A
• NM_000179.3:c.3807C>TMANE SELECT
• NM_001281492.2:c.3417C>T
• NM_001281493.2:c.2901C>T
• NM_001281494.2:c.2901C>T
• NP_000170.1:p.Cys1269=
• NP_000170.1:p.Cys1269=
• NP_001268421.1:p.Cys1139=
• NP_001268422.1:p.Cys967=
• NP_001268423.1:p.Cys967=
• LRG_219t1:c.3807C>T
• LRG_219:g.28311C>T
• LRG_219p1:p.Cys1269=
• NC_000002.11:g.48033596C>T
• NM_000179.2:c.3807C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs747924946

NCBI 1000 Genomes Browser:

rs747924946

Molecular consequence:

• NM_000179.3:c.3807C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281492.2:c.3417C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281493.2:c.2901C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281494.2:c.2901C>T - synonymous variant - [Sequence Ontology: SO:0001819]