ClinVar

NM_000551.4(VHL):c.241C>T (p.Pro81Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

• Chr3: 10142088 (on Assembly GRCh38)
• Chr3: 10183772 (on Assembly GRCh37)

Preferred name:

NM_000551.4(VHL):c.241C>T (p.Pro81Ser)

Other names:

p.P81S:CCG>TCG

HGVS:

• NC_000003.12:g.10142088C>T
• NG_008212.3:g.5454C>T
• NM_000551.4:c.241C>TMANE SELECT
• NM_001354723.2:c.241C>T
• NM_198156.3:c.241C>T
• NP_000542.1:p.Pro81Ser
• NP_000542.1:p.Pro81Ser
• NP_001341652.1:p.Pro81Ser
• NP_937799.1:p.Pro81Ser
• LRG_322t1:c.241C>T
• LRG_322:g.5454C>T
• LRG_322p1:p.Pro81Ser
• NC_000003.11:g.10183772C>T
• NM_000551.2:c.241C>T
• NM_000551.3:c.241C>T
• P40337:p.Pro81Ser
• p.P81S
• p.[Pro81Ser]

This HGVS expression did not pass validation

Protein change:

P81S; PRO81SER

Links:

UniProtKB: P40337#VAR_005689; OMIM: 608537.0020; dbSNP: rs104893829

NCBI 1000 Genomes Browser:

rs104893829

Molecular consequence:

• NM_000551.4:c.241C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354723.2:c.241C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_198156.3:c.241C>T - missense variant - [Sequence Ontology: SO:0001583]