ClinVar

NM_000551.4(VHL):c.464-10G>A

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:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

• Chr3: 10149777 (on Assembly GRCh38)
• Chr3: 10191461 (on Assembly GRCh37)

Preferred name:

NM_000551.4(VHL):c.464-10G>A

HGVS:

• NC_000003.12:g.10149777G>A
• NG_008212.3:g.13143G>A
• NG_046756.1:g.7539G>A
• NM_000551.4:c.464-10G>AMANE SELECT
• NM_001354723.2:c.*18-10G>A
• NM_198156.3:c.341-10G>A
• LRG_322t1:c.464-10G>A
• LRG_322:g.13143G>A
• NC_000003.11:g.10191461G>A
• NM_000551.3:c.464-10G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs552930903

NCBI 1000 Genomes Browser:

rs552930903

Molecular consequence:

• NM_000551.4:c.464-10G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354723.2:c.*18-10G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_198156.3:c.341-10G>A - intron variant - [Sequence Ontology: SO:0001627]