chr2:121530929:G>A Detail (hg38) (CLASP1, RNU4ATAC)

Information

Genome

Assembly Position
hg19 chr2:122,288,505-122,288,505 View the variant detail on this assembly version.
hg38 chr2:121,530,929-121,530,929

HGVS

Type Transcript Protein
RefSeq NM_015282.2:c.196-604C>T
NM_001142274.1:c.196-604C>T
NM_001142273.1:c.196-604C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 605852 OMIM
HGNC 17088 HGNC
Ensembl ENSG00000074054 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv8402125 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2011-04-08 no assertion criteria provided Osteodysplastic primordial dwarfism, type 1 germline unknown Detail
Conflicting interpretations of pathogenicity 2022-08-09 criteria provided, conflicting interpretations not provided germline Detail
Likely pathogenic 2021-05-07 criteria provided, single submitter Roifman syndrome maternal Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_001395891.1(CLASP1):c.196-604C>T AND Osteodysplastic primordial dwarfism, type 1 ClinVar Detail
NM_001395891.1(CLASP1):c.196-604C>T AND not provided ClinVar Detail
NM_001395891.1(CLASP1):c.196-604C>T AND Roifman syndrome ClinVar 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
rs181195449 dbSNP
Genome
hg38
Position
chr2:121,530,929-121,530,929
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs181195449
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
134
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
Chromosome Counts in All Race (ExAC)
10764
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
9.29022668153103E-5
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