Full data view for gene NT5C2

Information The variants shown are described using the NM_012229.4 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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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.-122-8dup r.(=) p.(=) Unknown - benign g.104941106dup - NT5C2(NM_001351187.1):c.-993-8dupT - NT5C2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.7A>G r.(?) p.(Thr3Ala) Parent #1 - benign g.104934709T>C g.103174952T>C - - NT5C2_000010 199 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs10883841 Germline - 199/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 199 Mohammed Faruq
-/. - c.7A>G r.(?) p.(Thr3Ala) Both (homozygous) - benign g.104934709T>C g.103174952T>C - - NT5C2_000010 8 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs10883841 Germline - 8/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 8 Mohammed Faruq
+/. 3 c.86G>A r.(?) p.(Arg29Gln) Both (homozygous) - pathogenic g.104934630C>T g.103174873C>T G86A - NT5C2_000002 - PubMed: Novarino 2014, Journal: Novarino 2014, OMIM:var0001 - rs587777173 Germline yes - - - - DNA SEQ, SEQ-NG - - SPG45 - PubMed: Novarino 2014, Journal: Novarino 2014 4-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents F;M yes Turkey - - - - - 3 Johan den Dunnen
+/. 4i c.175+1G>A r.spl p.? Both (homozygous) - pathogenic g.104899162C>T g.103139405C>T - - NT5C2_000006 - PubMed: Novarino 2014, Journal: Novarino 2014, OMIM:var0005 - rs886037658 Germline yes - - - - DNA SEQ, SEQ-NG - - ? - PubMed: Novarino 2014, Journal: Novarino 2014 4-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents F;M yes - - - - - - 2 Johan den Dunnen
+/. - c.445A>T r.(?) p.(Arg149*) Both (homozygous) - pathogenic g.104861028T>A g.103101271T>A A445T - NT5C2_000003 - PubMed: Novarino 2014, Journal: Novarino 2014, OMIM:var0004 - rs587777174 Germline yes - - - - DNA SEQ, SEQ-NG - - ? - PubMed: Novarino 2014, Journal: Novarino 2014 4-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes - - - - - - 2 Johan den Dunnen
+?/. 11i_12i c.771+576_814-296del r.? p.(Lys258_Lys271del) Both (homozygous) - likely pathogenic g.104854510_104856474del g.103094753_103096717del NG_042272.1:g.101589_103554del - NT5C2_000001 - PubMed: Darvish 2018 - - Germline yes - - - - DNA SEQ-NG-I blood - SPG45 29123918-Fam PubMed: Darvish 2018 2-generation family, 3 affecteds (2F, M), unaffected carrier parents parents/sibs M yes Iran Asian - - - - 3 Coro Paisan-Ruiz
+/. 14i c.989-1G>T r.spl? p.? Both (homozygous) - pathogenic g.104853067C>A g.103093310C>A 988-1G>T - NT5C2_000004 - PubMed: Novarino 2014, Journal: Novarino 2014, OMIM:var0003 - rs886037657 Germline yes - - - - DNA SEQ, SEQ-NG - - ? - PubMed: Novarino 2014, Journal: Novarino 2014 4-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes - - - - - - 2 Johan den Dunnen
+/. 17 c.1225del r.(?) p.(Ser409Valfs*18) Both (homozygous) - pathogenic g.104850740del g.103090983del 104850739CT>C - NT5C2_000005 - PubMed: Novarino 2014, Journal: Novarino 2014, OMIM:var0002 - rs886037656 Germline yes - - - - DNA SEQ, SEQ-NG - - ? - PubMed: Novarino 2014, Journal: Novarino 2014 5-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes - - - - - - 2 Johan den Dunnen
+/. - c.1339dup r.(?) p.(Gln447ProfsTer13) Both (homozygous) - pathogenic g.104850478dup g.103090721dup - - NT5C2_000009 - - - - Unknown - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 IMGAG
+/. - c.1339dup r.(?) p.(Gln447ProfsTer13) Both (homozygous) - pathogenic (recessive) g.104850478dup g.103090721dup - - NT5C2_000009 - PubMed: Froukh 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD TF004 PubMed: Froukh 2020 analysis 103 families with neurodevelopmental disorders - - Jordan - - - - - 1 Johan den Dunnen
-?/. - c.1425C>T r.(?) p.(Tyr475=) Unknown - likely benign g.104850392G>A - NT5C2(NM_001351179.1):c.852C>T (p.Y284=) - NT5C2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1665G>T r.(?) p.(Glu555Asp) Unknown - VUS g.104849450C>A - NT5C2(NM_001351179.1):c.1092G>T (p.E364D) - NT5C2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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