ClinVar

NM_000179.3(MSH6):c.1938G>A (p.Lys646=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47799921 (on Assembly GRCh38)
• Chr2: 48027060 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.1938G>A (p.Lys646=)

HGVS:

• NC_000002.12:g.47799921G>A
• NG_007111.1:g.21775G>A
• NM_000179.3:c.1938G>AMANE SELECT
• NM_001281492.2:c.1548G>A
• NM_001281493.2:c.1032G>A
• NM_001281494.2:c.1032G>A
• NP_000170.1:p.Lys646=
• NP_000170.1:p.Lys646=
• NP_001268421.1:p.Lys516=
• NP_001268422.1:p.Lys344=
• NP_001268423.1:p.Lys344=
• LRG_219t1:c.1938G>A
• LRG_219:g.21775G>A
• LRG_219p1:p.Lys646=
• NC_000002.11:g.48027060G>A
• NM_000179.2:c.1938G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs758631207

NCBI 1000 Genomes Browser:

rs758631207

Molecular consequence:

• NM_000179.3:c.1938G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281492.2:c.1548G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281493.2:c.1032G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281494.2:c.1032G>A - synonymous variant - [Sequence Ontology: SO:0001819]