ClinVar

NM_000179.3(MSH6):c.4068G>A (p.Leu1356=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47806845 (on Assembly GRCh38)
• Chr2: 48033984 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.4068G>A (p.Leu1356=)

HGVS:

• NC_000002.12:g.47806845G>A
• NG_007111.1:g.28699G>A
• NG_008397.1:g.103831C>T
• NM_000179.3:c.4068G>AMANE SELECT
• NM_001281492.2:c.3678G>A
• NM_001281493.2:c.3162G>A
• NM_001281494.2:c.3162G>A
• NP_000170.1:p.Leu1356=
• NP_000170.1:p.Leu1356=
• NP_001268421.1:p.Leu1226=
• NP_001268422.1:p.Leu1054=
• NP_001268423.1:p.Leu1054=
• LRG_219t1:c.4068G>A
• LRG_219:g.28699G>A
• LRG_219p1:p.Leu1356=
• NC_000002.11:g.48033984G>A
• NM_000179.2:c.4068G>A
• p.L1356L

This HGVS expression did not pass validation

Links:

dbSNP: rs192740549

NCBI 1000 Genomes Browser:

rs192740549

Molecular consequence:

• NM_000179.3:c.4068G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281492.2:c.3678G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281493.2:c.3162G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281494.2:c.3162G>A - synonymous variant - [Sequence Ontology: SO:0001819]