ClinVar

NM_000551.4(VHL):c.605C>T (p.Thr202Ile)

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: 10149928 (on Assembly GRCh38)
• Chr3: 10191612 (on Assembly GRCh37)

Preferred name:

NM_000551.4(VHL):c.605C>T (p.Thr202Ile)

Other names:

p.Thr202Ile

HGVS:

• NC_000003.12:g.10149928C>T
• NG_008212.3:g.13294C>T
• NG_046756.1:g.7690C>T
• NM_000551.4:c.605C>TMANE SELECT
• NM_001354723.2:c.*159C>T
• NM_198156.3:c.482C>T
• NP_000542.1:p.Thr202Ile
• NP_000542.1:p.Thr202Ile
• NP_937799.1:p.Thr161Ile
• LRG_322t1:c.605C>T
• LRG_322:g.13294C>T
• LRG_322p1:p.Thr202Ile
• NC_000003.11:g.10191612C>T
• NM_000551.3:c.605C>T

This HGVS expression did not pass validation

Protein change:

T161I

Links:

dbSNP: rs779514074

NCBI 1000 Genomes Browser:

rs779514074

Molecular consequence:

• NM_001354723.2:c.*159C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_000551.4:c.605C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_198156.3:c.482C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1