Full data view for gene ARSH

Information The variants shown are described using the NM_001011719.1 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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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.24C>G r.(?) p.(Asn8Lys) Unknown - VUS g.2924677C>G - ARSH(NM_001011719.1):c.24C>G (p.(Asn8Lys)) - ARSH_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.130A>G r.(?) p.(Arg44Gly) Unknown - likely benign g.2928108A>G - ARSH(NM_001011719.1):c.130A>G (p.(Arg44Gly)) - ARSH_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.147C>T r.(=) p.(=) Parent #1 - benign g.2928125C>T g.3010084C>T - - ARSH_000038 60 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79487908 Germline - 60/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 60 Mohammed Faruq
-/. - c.147C>T r.(=) p.(=) Unknown - benign g.2928125C>T g.3010084C>T - - ARSH_000038 54 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79487908 Germline - 54/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 54 Mohammed Faruq
-?/. - c.161T>C r.(?) p.(Met54Thr) Unknown - likely benign g.2928139T>C g.3010098T>C ARSH(NM_001011719.1):c.161T>C (p.(Met54Thr)) - ARSH_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.193G>A r.(?) p.(Gly65Ser) Unknown - likely benign g.2928171G>A g.3010130G>A ARSH(NM_001011719.1):c.193G>A (p.G65S) - ARSH_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.196C>T r.(?) p.(Arg66Trp) Unknown - likely benign g.2928174C>T g.3010133C>T ARSH(NM_001011719.1):c.196C>T (p.R66W) - ARSH_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.214+363T>C r.(?) p.(=) Maternal (inferred) - VUS g.2928555T>C g.3010514T>C - - ARSH_000001 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - n.214+363T>C r.(?) p.(=) Maternal (inferred) - VUS g.2928555T>C g.3010514T>C - - ARSH_000001 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.239A>G r.(?) p.(Asn80Ser) Unknown - likely benign g.2931112A>G - ARSH(NM_001011719.2):c.239A>G (p.(Asn80Ser)) - ARSH_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.340+265C>G r.(?) p.(=) Maternal (inferred) - VUS g.2931478C>G g.3013437C>G - - ARSH_000003 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - n.340+265C>G r.(?) p.(=) Maternal (inferred) - VUS g.2931478C>G g.3013437C>G - - ARSH_000003 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - n.340+331G>A r.(?) p.(=) Maternal (inferred) - VUS g.2931544G>A g.3013503G>A - - ARSH_000006 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - n.340+331G>A r.(?) p.(=) Maternal (inferred) - VUS g.2931544G>A g.3013503G>A - - ARSH_000006 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - n.340+379C>T r.(?) p.(=) Maternal (inferred) - VUS g.2931592C>T g.3013551C>T - - ARSH_000009 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.374G>T r.(?) p.(Arg125Leu) Unknown - likely benign g.2933044G>T g.3015003G>T ARSH(NM_001011719.1):c.374G>T (p.(Arg125Leu)) - ARSH_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.397C>G r.(?) p.(Leu133Val) Unknown - benign g.2933067C>G - ARSH(NM_001011719.2):c.397C>G (p.L133V) - ARSH_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.430C>A r.(?) p.(Pro144Thr) Unknown - likely benign g.2933100C>A g.3015059C>A ARSH(NM_001011719.1):c.430C>A (p.(Pro144Thr)) - ARSH_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.563G>A r.(?) p.(Arg188His) Unknown - likely benign g.2933233G>A g.3015192G>A ARSH(NM_001011719.1):c.563G>A (p.(Arg188His)) - ARSH_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.655C>T r.(?) p.(Arg219Ter) Unknown - VUS g.2933325C>T g.3015284C>T ARSH(NM_001011719.1):c.655C>T (p.R219*) - ARSH_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.839T>C r.(?) p.(Phe280Ser) Unknown - likely benign g.2936649T>C - ARSH(NM_001011719.1):c.839T>C (p.F280S) - ARSH_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.890A>G r.(?) p.(Asp297Gly) Unknown - VUS g.2936700A>G - ARSH(NM_001011719.2):c.890A>G (p.(Asp297Gly)) - ARSH_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.930G>C r.(?) p.(Glu310Asp) Unknown - likely pathogenic (dominant) g.2942090G>C g.3024049G>C - - ARSH_000046 candidate disease gene; variant not in male controls PubMed: Chen 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WGS ? PatU27 PubMed: Chen 2024 - M - China Asia-E - - - - 1 Johan den Dunnen
?/. - n.949T>C r.(?) p.(=) Maternal (inferred) - VUS g.2942109T>C g.3024068T>C - - ARSH_000019 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - n.949T>C r.(?) p.(=) Maternal (inferred) - VUS g.2942109T>C g.3024068T>C - - ARSH_000019 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.973G>C r.(?) p.(Gly325Arg) Unknown - VUS g.2942133G>C g.3024092G>C ARSH(NM_001011719.1):c.973G>C (p.(Gly325Arg)) - ARSH_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.974G>C r.(?) p.(Gly325Ala) Unknown - likely pathogenic (dominant) g.2942134G>C g.3024093G>C - - ARSH_000047 candidate disease gene; variant not in male controls PubMed: Chen 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WGS ? PatU64 PubMed: Chen 2024 - M - China Asia-E - - - - 1 Johan den Dunnen
?/. - n.1036+133del r.(?) p.(=) Unknown - VUS g.2942329del g.3024288del - - ARSH_000022 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - n.1036+133del r.(?) p.(=) Unknown - VUS g.2942329del g.3024288del - - ARSH_000022 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-/. - c.1160C>T r.(?) p.(Thr387Met) Parent #1 - benign g.2945477C>T g.3027436C>T - - ARSH_000039 83 heterozygous; {DB:CLININX:2945477-CT} PubMed: Narang 2020, Journal: Narang 2020 - - Germline - 83/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 83 Mohammed Faruq
-/. - c.1160C>T r.(?) p.(Thr387Met) Unknown - benign g.2945477C>T g.3027436C>T - - ARSH_000039 85 homozygous; {DB:CLININX:2945477-CT} PubMed: Narang 2020, Journal: Narang 2020 - - Germline - 85/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 85 Mohammed Faruq
?/. - c.1177G>A r.(?) p.(Gly393Arg) Unknown - VUS g.2945494G>A g.3027453G>A ARSH(NM_001011719.1):c.1177G>A (p.G393R, p.(Gly393Arg)) - ARSH_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1177G>A r.(?) p.(Gly393Arg) Unknown - VUS g.2945494G>A - ARSH(NM_001011719.1):c.1177G>A (p.G393R, p.(Gly393Arg)) - ARSH_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.1200-170del r.(?) p.(=) Unknown - VUS g.2947118del g.3029077del - - ARSH_000024 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - n.1200-170_1200-169insA r.(=) p.(=) Unknown - VUS g.2947118_2947119insA g.3029077_3029078insA - - ARSH_000025 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - n.1200-155dup r.(?) p.(=) Unknown - VUS g.2947133dup g.3029092dup - - ARSH_000011 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - n.1321+365G>T r.(?) p.(=) Maternal (inferred) - VUS g.2947774G>T g.3029733G>T - - ARSH_000012 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - n.1322-98A>G r.(?) p.(=) Maternal (inferred) - VUS g.2950961A>G g.3032920A>G - - ARSH_000013 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - n.1322-98A>G r.(?) p.(=) Maternal (inferred) - VUS g.2950961A>G g.3032920A>G - - ARSH_000013 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - n.1322-61C>T r.(?) p.(=) Maternal (inferred) - VUS g.2950998C>T g.3032957C>T - - ARSH_000016 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - n.1322-61C>T r.(?) p.(=) Maternal (inferred) - VUS g.2950998C>T g.3032957C>T - - ARSH_000016 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+?/. - c.1354C>G r.(?) p.(Pro452Ala) Unknown - likely pathogenic (dominant) g.2951091C>G g.3033050C>G - - ARSH_000048 candidate disease gene; variant not in male controls PubMed: Chen 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WGS ? PatB122 PubMed: Chen 2024 - M - China Asia-E - - - - 1 Johan den Dunnen
+?/. - c.1354C>G r.(?) p.(Pro452Ala) Unknown - likely pathogenic (dominant) g.2951091C>G g.3033050C>G - - ARSH_000048 candidate disease gene; variant not in male controls PubMed: Chen 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WGS ? PatU127 PubMed: Chen 2024 - M - China Asia-E - - - - 1 Johan den Dunnen
+?/. - c.1354C>G r.(?) p.(Pro452Ala) Unknown - likely pathogenic (dominant) g.2951091C>G g.3033050C>G - - ARSH_000048 candidate disease gene; variant not in male controls PubMed: Chen 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WGS ? PatU28 PubMed: Chen 2024 - M - China Asia-E - - - - 1 Johan den Dunnen
?/. - c.1475C>T r.(?) p.(Ala492Val) Unknown - VUS g.2951212C>T g.3033171C>T ARSH(NM_001011719.1):c.1475C>T (p.(Ala492Val)) - ARSH_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1489C>G r.(?) p.(Pro497Ala) Unknown - likely benign g.2951226C>G g.3033185C>G ARSH(NM_001011719.2):c.1489C>G (p.P497A) - ARSH_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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