ClinVar

NM_000179.3(MSH6):c.2415C>T (p.Ile805=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47800398 (on Assembly GRCh38)
• Chr2: 48027537 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.2415C>T (p.Ile805=)

HGVS:

• NC_000002.12:g.47800398C>T
• NG_007111.1:g.22252C>T
• NM_000179.3:c.2415C>TMANE SELECT
• NM_001281492.2:c.2025C>T
• NM_001281493.2:c.1509C>T
• NM_001281494.2:c.1509C>T
• NP_000170.1:p.Ile805=
• NP_000170.1:p.Ile805=
• NP_001268421.1:p.Ile675=
• NP_001268422.1:p.Ile503=
• NP_001268423.1:p.Ile503=
• LRG_219t1:c.2415C>T
• LRG_219:g.22252C>T
• LRG_219p1:p.Ile805=
• NC_000002.11:g.48027537C>T
• NM_000179.2:c.2415C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1219649543

NCBI 1000 Genomes Browser:

rs1219649543

Molecular consequence:

• NM_000179.3:c.2415C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281492.2:c.2025C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281493.2:c.1509C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281494.2:c.1509C>T - synonymous variant - [Sequence Ontology: SO:0001819]