chr7:30019116:>G Detail (hg38) (FKBP14, FKBP14-AS1)

Information

Genome

Assembly Position
hg19 chr7:30,058,732-30,058,732 
hg38 chr7:30,019,116-30,019,116

HGVS

Type Transcript Protein
RefSeq NM_017946.3:c.356_357insC NP_060416.1:p.Glu122ArgfsTer7
NR_046478.1:c.356_357insC
Ensemble ENST00000222803.10:c.356_357insC ENST00000222803.10:p.Glu122ArgfsTer7
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 Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 614505 OMIM
HGNC 18625 HGNC
Ensembl ENSG00000106080 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv348247089 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-04-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2016-02-10 no assertion criteria provided congenital muscular dystrophy unknown Detail
Pathogenic Likely pathogenic 2024-01-27 criteria provided, multiple submitters, no conflicts Ehlers-Danlos syndrome, kyphoscoliotic type, 2 biparental germline paternal unknown Detail
Pathogenic 2023-01-11 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) AND not provided ClinVar Detail
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) AND multiple conditions ClinVar Detail
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) AND Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar Detail
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) AND Cardiovascular phenotype 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
rs542489955 dbSNP
Genome
hg38
Position
chr7:30,019,116-30,019,116
Variant Type
snv
Reference Allele
-
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8622
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)
120612
Allele Counts in All Race (ExAC)
75
Heterozygous Counts in All Race (ExAC)
75
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
6.218286737638046E-4
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