Full data view for gene ARF1

Information The variants shown are described using the NM_001658.3 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA 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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.19_20del r.(?) p.(Asn7Profs*31) Unknown - VUS g.228284834_228284835del - ARF1(NM_001658.3):c.19_20delAA (p.(Asn7fs)) - C1orf35_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.55C>T r.(?) p.(Arg19Cys) Unknown - pathogenic (dominant) g.228284870C>T g.228097169C>T - - ARF1_000007 - PubMed: de Sainte Agathe 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES PVNH Pat1 PubMed: de Sainte Agathe 2023 2-generation family, 1 affected, unaffected heterozygous parents M - - - - - - - 1 Johan den Dunnen
+/. - c.55C>T r.(?) p.(Arg19Cys) Unknown - pathogenic (dominant) g.228284870C>T g.228097169C>T - - ARF1_000007 - PubMed: de Sainte Agathe 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES trio PVNH Pat2 PubMed: de Sainte Agathe 2023 2-generation family, 1 affected, unaffected heterozygous parents M - - - - - - - 1 Johan den Dunnen
+/. - c.103T>C r.(?) p.(Tyr35His) Unknown - pathogenic (dominant) g.228284918T>C g.228097217T>C - - ARF1_000004 - PubMed: Ge 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? Pat1 PubMed: Ge 2016 - M - United States - - - - - 1 Johan den Dunnen
+/. - c.103T>G r.(?) p.(Tyr35Asp) Unknown - pathogenic (dominant) g.228284918T>G g.228097217T>G - - ARF1_000008 - PubMed: de Sainte Agathe 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES trio PVNH Pat3 PubMed: de Sainte Agathe 2023 2-generation family, 1 affected, unaffected heterozygous parents M - - - - - - - 1 Johan den Dunnen
+/. - c.143C>T r.(?) p.(Thr48Ile) Unknown - pathogenic (dominant) g.228284958C>T g.228097257C>T - - ARF1_000009 - PubMed: de Sainte Agathe 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS trio PVNH Pat4 PubMed: de Sainte Agathe 2023 2-generation family, 1 affected, unaffected heterozygous parents F - - - - - - - 1 Johan den Dunnen
-?/. - c.148+7T>G r.(=) p.(=) Unknown - likely benign g.228284970T>G - ARF1(NM_001658.4):c.148+7T>G - C1orf35_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.151T>C r.(?) p.(Phe51Leu) Unknown - pathogenic (dominant) g.228285045T>C g.228097344T>C - - ARF1_000010 - PubMed: de Sainte Agathe 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - GS trio PVNH Pat5 PubMed: de Sainte Agathe 2023 2-generation family, 1 affected, unaffected heterozygous parents F - - - - - - - 1 Johan den Dunnen
+/. - c.153C>A r.(?) p.(Phe51Leu) Unknown - pathogenic (dominant) g.228285047C>A g.228097346C>A - - ARF1_000011 - PubMed: de Sainte Agathe 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES trio PVNH Pat6 PubMed: de Sainte Agathe 2023 2-generation family, 1 affected, unaffected heterozygous parents M - - - - - - - 1 Johan den Dunnen
?/. 2 c.201C>G r.(?) p.(Asp67Glu) Unknown ACMG VUS (!) g.228285095C>G g.228097394C>G - - ARF1_000002 ACMG: PS2_MOD, PM2_SUP, PP2, PP3; confirmed de novo in trio exome - - - De novo - - - - - DNA SEQ-NG-I - - PVNH8 205242 - prenatal trio Dx after ultrasound abnormalities M no - - - - - - 1 Andreas Laner
+/. - c.214del r.(?) p.(Asp72ThrfsTer17) Unknown - pathogenic (dominant) g.228285108del g.228097407del - - ARF1_000012 - PubMed: de Sainte Agathe 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES trio PVNH Pat7 PubMed: de Sainte Agathe 2023 2-generation family, 1 affected, unaffected heterozygous parents F - - - - - - - 1 Johan den Dunnen
+/. - c.278A>G r.(?) p.(Asp93Gly) Unknown - pathogenic (dominant) g.228285310A>G g.228097609A>G - - ARF1_000013 - PubMed: de Sainte Agathe 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS trio PVNH Pat8 PubMed: de Sainte Agathe 2023 2-generation family, 1 affected, unaffected heterozygous parents F - - - - - - - 1 Johan den Dunnen
+/. - c.295C>T r.(?) p.(Arg99Cys) Unknown - pathogenic g.228285327C>T g.228097626C>T - - ARF1_000014 - PubMed: de Sainte Agathe 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WGS duo PVNH Pat9 PubMed: de Sainte Agathe 2023 - M - - - - - - - 1 Johan den Dunnen
?/. - c.296G>A r.(?) p.(Arg99His) Unknown - VUS g.228285328G>A g.228097627G>A ARF1(NM_001024227.1):c.296G>A (p.R99H) - ARF1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.296G>A r.(?) p.(Arg99His) Unknown - VUS g.228285328G>A g.228097627G>A ARF1(NM_001024227.1):c.296G>A (p.R99H) - ARF1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.296G>A r.(?) p.(Arg99His) Unknown - pathogenic (dominant) g.228285328G>A g.228097627G>A - - ARF1_000001 - PubMed: Ge 2016, PubMed: de Sainte Agathe 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES trio PVNH Pat3;- PubMed: Ge 2016, PubMed: de Sainte Agathe 2023 2-generation family, 1 affected, unaffected heterozygous parents F - - - - - - - 1 Johan den Dunnen
+/. - c.296G>A r.(?) p.(Arg99His) Unknown - pathogenic (dominant) g.228285328G>A g.228097627G>A - - ARF1_000001 - PubMed: de Sainte Agathe 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES trio PVNH Pat10 PubMed: de Sainte Agathe 2023 2-generation family, 1 affected, unaffected heterozygous parents F - - - - - - - 1 Johan den Dunnen
+/. - c.296G>A r.(?) p.(Arg99His) Unknown - pathogenic (dominant) g.228285328G>A g.228097627G>A - - ARF1_000001 - PubMed: de Sainte Agathe 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES trio PVNH Pat11 PubMed: de Sainte Agathe 2023 2-generation family, 1 affected, unaffected heterozygous parents M - - - - - - - 1 Johan den Dunnen
+/. - c.296G>A r.(?) p.(Arg99His) Unknown - pathogenic (dominant) g.228285328G>A g.228097627G>A - - ARF1_000001 - PubMed: de Sainte Agathe 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES trio PVNH Pat12 PubMed: de Sainte Agathe 2023 2-generation family, 1 affected, unaffected heterozygous parents F - - - - - - - 1 Johan den Dunnen
+/. - c.296G>A r.(?) p.(Arg99His) Unknown - pathogenic (dominant) g.228285328G>A g.228097627G>A - - ARF1_000001 - PubMed: de Sainte Agathe 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES trio PVNH Pat13 PubMed: de Sainte Agathe 2023 2-generation family, 1 affected, unaffected heterozygous parents F - - - - - - - 1 Johan den Dunnen
+/. - c.379A>G r.(?) p.(Lys127Glu) Unknown - pathogenic (dominant) g.228285411A>G g.228097710A>G - - ARF1_000005 - PubMed: Ge 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - - PVNH Pat2 PubMed: Ge 2016 - F - - - - - - - 1 Johan den Dunnen
+/. - c.379A>G r.(?) p.(Lys127Glu) Unknown - pathogenic (dominant) g.228285411A>G g.228097710A>G - - ARF1_000005 - PubMed: de Sainte Agathe 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES trio PVNH Pat14 PubMed: de Sainte Agathe 2023 2-generation family, 1 affected, unaffected heterozygous parents F - - - - - - - 1 Johan den Dunnen
+/. - c.384+1G>T r.384_385ins[u;384+2_384+27] p.Gln128_Asp129insFGARASLGN Unknown - pathogenic (dominant) g.228285417G>T g.228097716G>T - - ARF1_000006 - PubMed: de Sainte Agathe 2023 - - De novo - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES trio PVNH Pat15 PubMed: de Sainte Agathe 2023 2-generation family, 1 affected, unaffected heterozygous parents M - - - - - - - 1 Johan den Dunnen
?/. - c.385G>T r.(?) p.(Asp129Tyr) Unknown - VUS g.228285553G>T - ARF1(NM_001024226.2):c.385G>T (p.D129Y) - ARF1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.392C>T r.(?) p.(Pro131Leu) Unknown - pathogenic (dominant) g.228285560C>T g.228097859C>T - - ARF1_000015 - PubMed: de Sainte Agathe 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS PVNH Pat16 PubMed: de Sainte Agathe 2023 2-generation family, 1 affected, unaffected heterozygous parents M - - - - - - - 1 Johan den Dunnen
+/. - c.392C>T r.(?) p.(Pro131Leu) Unknown - pathogenic (dominant) g.228285560C>T g.228097859C>T - - ARF1_000015 - PubMed: de Sainte Agathe 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES trio PVNH Pat17 PubMed: de Sainte Agathe 2023 2-generation family, 1 affected, unaffected heterozygous parents F - - - - - - - 1 Johan den Dunnen
?/. - c.*5198C>A r.(=) p.(=) Unknown - VUS g.228290912C>A g.228103211C>A C1orf35(NM_024319.4):c.17G>T (p.R6L) - C1orf35_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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