ClinVar

NM_000249.3(MLH1):c.-86G>A

Gene:

MLH1:mutL homolog 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 36993462 (on Assembly GRCh38)
• Chr3: 37034953 (on Assembly GRCh37)

Preferred name:

NM_000249.3(MLH1):c.-86G>A

HGVS:

• NC_000003.12:g.36993462G>A
• NG_007109.2:g.5113G>A
• NG_008418.1:g.4843C>T
• NM_000249.3:c.-86G>A
• NM_001167617.2:c.-602G>A
• NM_001167618.2:c.-1031G>A
• NM_001167619.2:c.-944G>A
• NM_001258271.1:c.-86G>A
• NM_001258273.1:c.-718G>A
• NM_001258274.2:c.-1181G>A
• NM_001354615.1:c.-712G>A
• NM_001354616.1:c.-712G>A
• NM_001354617.1:c.-804G>A
• NM_001354618.1:c.-1036G>A
• NM_001354619.1:c.-1160G>A
• NM_001354620.1:c.-370G>A
• NM_001354621.1:c.-1129G>A
• NM_001354622.1:c.-1242G>A
• NM_001354623.1:c.-1151G>A
• NM_001354624.1:c.-912G>A
• NM_001354625.1:c.-810G>A
• NM_001354626.1:c.-907G>A
• NM_001354627.1:c.-1139G>A
• NM_001354628.1:c.-86G>A
• NM_001354629.1:c.-86G>A
• NM_001354630.1:c.-86G>A
• LRG_216t1:c.-86G>A
• LRG_216:g.5113G>A
• NC_000003.11:g.37034953G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs558051715

NCBI 1000 Genomes Browser:

rs558051715