ClinVar

NM_000551.4(VHL):c.419_420del (p.Leu140fs)

Genes:

LOC107303340:3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region [Gene]
VHL:von Hippel-Lindau tumor suppressor [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

3p25.3

Genomic location:

• Chr3: 10146588 - 10146589 (on Assembly GRCh38)
• Chr3: 10188272 - 10188273 (on Assembly GRCh37)

Preferred name:

NM_000551.4(VHL):c.419_420del (p.Leu140fs)

HGVS:

• NC_000003.12:g.10146588TC[2]
• NG_008212.3:g.9954TC[2]
• NG_046756.1:g.4350TC[2]
• NM_000551.4:c.419_420delMANE SELECT
• NM_001354723.2:c.*18-3199TC[2]
• NM_198156.3:c.341-3199TC[2]
• NP_000542.1:p.Leu140fs
• LRG_322:g.9954TC[2]
• NC_000003.11:g.10188272TC[2]
• NC_000003.11:g.10188272_10188273del
• NM_000551.3:c.419_420delTC
• p.[Leu140Glnfs*3]

This HGVS expression did not pass validation

Protein change:

L140fs

Links:

dbSNP: rs869025649

NCBI 1000 Genomes Browser:

rs869025649

Molecular consequence:

• NM_000551.4:c.419_420del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001354723.2:c.*18-3199TC[2] - intron variant - [Sequence Ontology: SO:0001627]
• NM_198156.3:c.341-3199TC[2] - intron variant - [Sequence Ontology: SO:0001627]

Observations:

6