chr17:82831627:G>A Detail (hg38) (TBCD, ZNF750)

Information

Genome

Assembly Position
hg19 chr17:80,789,503-80,789,503 View the variant detail on this assembly version.
hg38 chr17:82,831,627-82,831,627

HGVS

Type Transcript Protein
RefSeq NM_005993.4:c.1318+16693G>A
Ensemble ENST00000355528.9:c.1318+16693G>A
ENST00000539345.6:c.1318+16693G>A
Type Transcript Protein
RefSeq NM_024702.2:c.828C>T NP_078978.2:p.Tyr276=
Ensemble ENST00000269394.4:c.828C>T ENST00000269394.4:p.Tyr276=
ENST00000572562.1:c.-229-141C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 604649 OMIM
HGNC 11581 HGNC
Ensembl ENSG00000141556 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 610226 OMIM
HGNC 25843 HGNC
Ensembl ENSG00000141579 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
Likely benign 2019-05-02 criteria provided, single submitter ZNF750-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_024702.3(ZNF750):c.828C>T (p.Tyr276=) AND ZNF750-related disorder 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
-
Genome
hg38
Position
chr17:82,831,627-82,831,627
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121408
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6473379019504482E-5
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