ClinVar

NM_000179.3(MSH6):c.3711G>A (p.Glu1237=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47806268 (on Assembly GRCh38)
• Chr2: 48033407 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.3711G>A (p.Glu1237=)

HGVS:

• NC_000002.12:g.47806268G>A
• NG_007111.1:g.28122G>A
• NG_008397.1:g.104408C>T
• NM_000179.3:c.3711G>AMANE SELECT
• NM_001281492.2:c.3321G>A
• NM_001281493.2:c.2805G>A
• NM_001281494.2:c.2805G>A
• NP_000170.1:p.Glu1237=
• NP_000170.1:p.Glu1237=
• NP_001268421.1:p.Glu1107=
• NP_001268422.1:p.Glu935=
• NP_001268423.1:p.Glu935=
• LRG_219t1:c.3711G>A
• LRG_219:g.28122G>A
• LRG_219p1:p.Glu1237=
• NC_000002.11:g.48033407G>A
• NM_000179.2:c.3711G>A
• p.E1237E

This HGVS expression did not pass validation

Links:

dbSNP: rs754289472

NCBI 1000 Genomes Browser:

rs754289472

Molecular consequence:

• NM_000179.3:c.3711G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281492.2:c.3321G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281493.2:c.2805G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281494.2:c.2805G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

3