VHL p.Ser72GlyfsTer61 (p.S72Gfs*61) Detail (hg19) (VHL)

Information

Genome

Assembly Position
hg19 chr3:10,183,745-10,183,745
hg38 chr3:10,142,061-10,142,061 

HGVS

Type Transcript Protein
RefSeq NM_000551.3:c.213_214insGGTT NP_000542.1:p.Ser72GlyfsTer61
NM_198156.2:c.213_214insGGTT NP_937799.1:p.Ser72GlyfsTer62
Ensemble ENST00000256474.3:c.213_214insGGTT ENST00000256474.3:p.Ser72GlyfsTer61
Summary

MGeND

Clinical significance not provided
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 608537 OMIM
HGNC 12687 HGNC
Ensembl ENSG00000134086 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided bronchus or lung, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg19
Position
chr3:10,183,745-10,183,745
Variant Type
snv
Reference Allele
-
Alternative Allele
GGTT
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