ClinVar

NM_000249.4(MLH1):c.117-43_117-39del

Gene:

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

Variant type:

Deletion

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 36996573 - 36996577 (on Assembly GRCh38)
• Chr3: 37038064 - 37038068 (on Assembly GRCh37)

Preferred name:

NM_000249.4(MLH1):c.117-43_117-39del

HGVS:

• NC_000003.12:g.36996576_36996580del
• NG_007109.2:g.8227_8231del
• NG_008418.1:g.1728_1732del
• NM_000249.4:c.117-43_117-39delMANE SELECT
• NM_001167617.3:c.-173-43_-173-39del
• NM_001167618.3:c.-602-48_-602-44del
• NM_001167619.3:c.-515-43_-515-39del
• NM_001258271.2:c.117-43_117-39del
• NM_001258273.2:c.-517+2913_-517+2917del
• NM_001258274.3:c.-752-43_-752-39del
• NM_001354615.2:c.-510-43_-510-39del
• NM_001354616.2:c.-510-48_-510-44del
• NM_001354617.2:c.-602-48_-602-44del
• NM_001354618.2:c.-607-43_-607-39del
• NM_001354619.2:c.-607-43_-607-39del
• NM_001354620.2:c.-168-48_-168-44del
• NM_001354621.2:c.-700-43_-700-39del
• NM_001354622.2:c.-813-43_-813-39del
• NM_001354623.2:c.-723+2686_-723+2690del
• NM_001354624.2:c.-710-43_-710-39del
• NM_001354625.2:c.-608-48_-608-44del
• NM_001354626.2:c.-705-48_-705-44del
• NM_001354627.2:c.-710-43_-710-39del
• NM_001354628.2:c.117-43_117-39del
• NM_001354629.2:c.117-43_117-39del
• NM_001354630.2:c.117-43_117-39del
• LRG_216t1:c.117-43_117-39del
• LRG_216:g.8227_8231del
• NC_000003.11:g.37038064_37038068del
• NC_000003.11:g.37038067_37038071del
• NM_000249.3:c.117-43_117-39del
• NM_000249.3:c.117-46_117-42delTAGAG

This HGVS expression did not pass validation

Links:

dbSNP: rs587778895

NCBI 1000 Genomes Browser:

rs587778895

Molecular consequence:

• NM_000249.4:c.117-43_117-39del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001167617.3:c.-173-43_-173-39del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001167618.3:c.-602-48_-602-44del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001167619.3:c.-515-43_-515-39del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001258271.2:c.117-43_117-39del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001258273.2:c.-517+2913_-517+2917del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001258274.3:c.-752-43_-752-39del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354615.2:c.-510-43_-510-39del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354616.2:c.-510-48_-510-44del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354617.2:c.-602-48_-602-44del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354618.2:c.-607-43_-607-39del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354619.2:c.-607-43_-607-39del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354620.2:c.-168-48_-168-44del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354621.2:c.-700-43_-700-39del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354622.2:c.-813-43_-813-39del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354623.2:c.-723+2686_-723+2690del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354624.2:c.-710-43_-710-39del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354625.2:c.-608-48_-608-44del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354626.2:c.-705-48_-705-44del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354627.2:c.-710-43_-710-39del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354628.2:c.117-43_117-39del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354629.2:c.117-43_117-39del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354630.2:c.117-43_117-39del - intron variant - [Sequence Ontology: SO:0001627]