chr20:967282:G>A Detail (hg38) (RSPO4)

Information

Genome

Assembly Position
hg19 chr20:947,925-947,925 View the variant detail on this assembly version.
hg38 chr20:967,282-967,282

HGVS

Type Transcript Protein
RefSeq NM_001029871.3:c.301C>T NP_001025042.2:p.Gln101Ter
NM_001040007.2:c.301C>T NP_001035096.1:p.Gln101Ter
Ensemble ENST00000217260.9:c.301C>T ENST00000217260.9:p.Gln101Ter
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 610573 OMIM
HGNC 16175 HGNC
Ensembl ENSG00000101282 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2008-04-01 no assertion criteria provided Anonychia germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.242 Anonychia NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001029871.4(RSPO4):c.301C>T (p.Gln101Ter) AND Anonychia ClinVar Detail
NA DisGeNET Detail

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
-
dbSNP
rs387907026 dbSNP
Genome
hg38
Position
chr20:967,282-967,282
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser