ClinVar

NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47799329 (on Assembly GRCh38)
• Chr2: 48026468 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro)

HGVS:

• NC_000002.12:g.47799329T>C
• NG_007111.1:g.21183T>C
• NM_000179.3:c.1346T>CMANE SELECT
• NM_001281492.2:c.956T>C
• NM_001281493.2:c.440T>C
• NM_001281494.2:c.440T>C
• NP_000170.1:p.Leu449Pro
• NP_000170.1:p.Leu449Pro
• NP_001268421.1:p.Leu319Pro
• NP_001268422.1:p.Leu147Pro
• NP_001268423.1:p.Leu147Pro
• LRG_219t1:c.1346T>C
• LRG_219:g.21183T>C
• LRG_219p1:p.Leu449Pro
• NC_000002.11:g.48026468T>C
• NM_000179.2:c.1346T>C
• P52701:p.Leu449Pro

This HGVS expression did not pass validation

Protein change:

L147P

Links:

UniProtKB: P52701#VAR_043949; dbSNP: rs63750741

NCBI 1000 Genomes Browser:

rs63750741

Molecular consequence:

• NM_000179.3:c.1346T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281492.2:c.956T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281493.2:c.440T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281494.2:c.440T>C - missense variant - [Sequence Ontology: SO:0001583]