ClinVar

NM_000551.4(VHL):c.114C>T (p.Ser38=)

Gene:

VHL:von Hippel-Lindau tumor suppressor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

• Chr3: 10141961 (on Assembly GRCh38)
• Chr3: 10183645 (on Assembly GRCh37)

Preferred name:

NM_000551.4(VHL):c.114C>T (p.Ser38=)

HGVS:

• NC_000003.12:g.10141961C>T
• NG_008212.3:g.5327C>T
• NM_000551.4:c.114C>TMANE SELECT
• NM_001354723.2:c.114C>T
• NM_198156.3:c.114C>T
• NP_000542.1:p.Ser38=
• NP_000542.1:p.Ser38=
• NP_001341652.1:p.Ser38=
• NP_937799.1:p.Ser38=
• LRG_322t1:c.114C>T
• LRG_322:g.5327C>T
• LRG_322p1:p.Ser38=
• NC_000003.11:g.10183645C>T
• NM_000551.3:c.114C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs417164

NCBI 1000 Genomes Browser:

rs417164

Molecular consequence:

• NM_000551.4:c.114C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354723.2:c.114C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_198156.3:c.114C>T - synonymous variant - [Sequence Ontology: SO:0001819]