Individual #00163650

ID_report -
Reference -
Remarks Fetus, TOP 24th GW
Gender F
Consanguinity no
Country Germany
Population -
Age at death -
VIP 0
Data_av yes
Treatment none
Panel size 1
Diseases arthrogryposis
Owner name Florian Erger
Database submission license No license selected
Created by Florian Erger


Phenotypes

arthrogryposis (arthrogryposis)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     
0000128786 Fetal akinesia deformation sequence Familial, autosomal recessive - Multiple pterygium syndrome, lethal type - - - Increased nuchal translucency (HP:0010880), Arthrogryposis multiplex congenita (HP:0002804), Fetal akinesia sequence (HP:0001989), Bilateral talipes equinovarus (HP:0001776), Polyhydramnios (HP:0001561), Hypertelorism (HP:0000316), Palpebral edema (HP:0100540), Micrognathia (HP:0000347) - Florian Erger



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000164515 DNA SEQ-NG-I Umbilical cord - CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CNTN1, DOK7, KLHL40, MTM1, MUSK, NALCN, RAPSN, UBA1 26 Florian Erger



Variants

26 entries on 1 page. Showing entries 1 - 26.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
2 Unknown -/. - benign g.175614923_175614925del g.174750195_174750197del 854-14_854-12delTTT - CHRNA1_000048 - - - rs773734065 Unknown ? 0.3 controls - 0 - Florian Erger CHRNA1 - - - - - NM_001039523.2:c.854-14_854-12del - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
2 Unknown -/. - benign g.175614924_175614925del g.174750196_174750197del 854-13_854-12delTT - CHRNA1_000047 - - - rs139930312 Unknown ? 0.5 controls - 0 - Florian Erger CHRNA1 - - - - - NM_001039523.2:c.854-13_854-12del - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
2 Unknown -/. - benign g.175624116del g.174759388del 190-5delT - CHRNA1_000057 - - - rs34695580 Unknown ? 0.5 controls - 0 - Florian Erger CHRNA1 - - - - 2i NM_001039523.2:c.190-5del - r.spl? p.? - - - - - - - - - - - - - - - - - - -
2 Maternal (confirmed) +/. - pathogenic g.233409251C>T g.232544541C>T - - CHRNG_000068 - - ClinVar-487641 - Uniparental disomy, maternal allele - 0 controls - 0 - Florian Erger CHRNG - - - - 10 NM_005199.4:c.1210C>T - r.(?) p.(Gln404*) - - - - - - - - - - - - - - - - - - -
2 Unknown -/. - benign g.233410294C>T g.232545584C>T - - CHRNG_000064 - - - - Uniparental disomy, maternal allele - 0.2 controls - 0 - Florian Erger CHRNG - - - - 12 NM_005199.4:c.1422C>T - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
3 Unknown -/. - benign g.42728144A>G g.42686652A>G - - KLHL40_000033 - - - rs6805421 Unknown ? 0.8 controls - 0 - Florian Erger KLHL40 - - - - 1 NM_152393.3:c.1034A>G - r.(?) p.(Asn345Ser) - - - - - - - - - - - - - - - - - - -
3 Unknown -/. - benign g.42733468T>C g.42691976T>C - - KLHL40_000034 - - - rs123509 Unknown ? 0.85 controls - 0 - Florian Erger KLHL40 - - - - 6 NM_152393.3:c.1849T>C - r.(?) p.(Cys617Arg) - - - - - - - - - - - - - - - - - - -
4 Unknown -/. - benign g.3475252= g.3473525C>T - - DOK7_000078 - - - rs4325970 Unknown ? 0.99 controls - 0 - Florian Erger DOK7 - - - - 3 NM_173660.4:c.220C>T - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
4 Unknown -/. - benign g.3494600A>G g.3492873A>G - - DOK7_000087 - - - rs6811423 Unknown ? 0.24 controls - 0 - Florian Erger DOK7 - - - - 7 NM_173660.4:c.887A>G - r.(?) p.(Gln296Arg) - - - - - - - - - - - - - - - - - - -
4 Unknown -/. - benign g.3494826A>C g.3493099A>C - - DOK7_000088 - - - rs6811856 Unknown ? 0.24 controls - 0 - Florian Erger DOK7 - - - - 7 NM_173660.4:c.1113A>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
4 Unknown -/. - benign g.3494847G>A g.3493120G>A - - DOK7_000089 - - - rs6831659 Unknown ? 0.31 controls - 0 - Florian Erger DOK7 - - - - 7 NM_173660.4:c.1134G>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
4 Unknown -/. - benign g.3494898C>T g.3493171C>T - - DOK7_000090 - - - rs6850908 Unknown ? 0.27 controls - 0 - Florian Erger DOK7 - - - - 7 NM_173660.4:c.1185C>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
11 Unknown -/. - benign g.47460306A>G g.47438755A>G - - RAPSN_000007 - - - rs7126210 Unknown ? 0.68 controls - 0 - Florian Erger RAPSN - - - - 7 NM_005055.4:c.1143T>C - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
11 Unknown -/. - benign g.47463220C>T g.47441668C>T - - RAPSN_000006 - - - rs45603036 Unknown ? 0.15 controls - 0 - Florian Erger RAPSN - - - - 5 NM_005055.4:c.855G>A - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
11 Unknown -/. - benign g.47463485del g.47441933del 691-11delC - RAPSN_000016 - - - rs34729771 Unknown ? 0.74 controls - 0 - Florian Erger RAPSN - - - - - NM_005055.4:c.691-11del - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
11 Unknown -/. - benign g.47469439A>G g.47447887A>G - - RAPSN_000005 - - - rs7111873 Unknown ? 0.71 controls - 0 - Florian Erger RAPSN - - - - 2 NM_005055.4:c.456T>C - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
11 Unknown -/. - benign g.47469717G>A g.47448165G>A - - RAPSN_000029 - - 259627 rs45547231 Unknown ? 0.15 controls - 0 - Florian Erger RAPSN - - - - 1i NM_005055.4:c.193-15C>T - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
12 Unknown -/. - benign g.41337435C>T g.40943633C>T - - CNTN1_000008 - - - rs1056019 Unknown ? 0.65 controls - 0 - Florian Erger CNTN1 - - - - - NM_001843.3:c.1416C>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
13 Unknown -/. - benign g.101735211G>A g.101082860G>A - - NALCN_000022 - - - rs17677552 Unknown ? 0.37 controls - 0 - Florian Erger NALCN - - - - - NM_052867.2:c.3714C>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
13 Unknown -/. - benign g.101736075A>G g.101083724A>G - - NALCN_000023 - - - rs686141 Unknown ? 0.73 controls - 0 - Florian Erger NALCN - - - - - NM_052867.2:c.3570T>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
13 Unknown -/. - benign g.101881777G>A g.101229426G>A - - NALCN_000024 - - - rs3916906 Unknown ? 0.36 controls - 0 - Florian Erger NALCN - - - - - NM_052867.2:c.1593C>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
17 Unknown -/. - benign g.4802685G>A g.4899390G>A - - CHRNE_000112 - - - rs2075763 Unknown ? 0.07 controls - 0 - Florian Erger CHRNE - - - - 9i NM_000080.3:c.1033-6C>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
17 Unknown -/. - benign g.4804073G>C g.4900778G>C - - CHRNE_000111 - - - rs12942540 Unknown ? 0.14 controls - 0 - Florian Erger CHRNE - - - - 8i NM_000080.3:c.917+15C>G - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
17 Unknown -/. - benign g.4804902G>A g.4901607G>A - - CHRNE_000167 - - - rs33970119 Unknown ? 0.05 controls - 0 - Florian Erger CHRNE - - - - 6 NM_000080.3:c.519C>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
X Unknown -/. - benign g.47061018C>G g.47201619C>G - - UBA1_000014 - - - rs4239964 Unknown ? 0.99 controls - 0 - Florian Erger UBA1 - - - - - NM_003334.3:c.811+9C>G - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
X Unknown -/. - benign g.47062534G>A g.47203135G>A - - UBA1_000003 - - - rs2070169 Unknown ? 0.1 controls - 0 - Florian Erger UBA1 - - - - - NM_003334.3:c.1340G>A - r.(?) p.(Arg447His) - - - - - - - - - - - - - - - - - - -
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