Full data view for gene KLHL3

Information The variants shown are described using the NM_017415.2 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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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.-8645950_*13129263dup - - Unknown - pathogenic g.123828524_145717285dup - - - SIL1_000024 mosaicism, copy number 3 in 0.38 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
?/. - c.332C>T r.(?) p.(Ala111Val) Unknown - VUS g.137034007G>A g.137698318G>A - - KLHL3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.471A>G r.(?) p.(Ala157=) Unknown - benign g.137028029T>C g.137692340T>C - - KLHL3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.781A>G r.(?) p.(Asn261Asp) Unknown - likely benign g.136993942T>C g.137658253T>C KLHL3(NM_001257194.1):c.685A>G (p.(Asn229Asp)) - KLHL3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1156A>G r.(?) p.(Thr386Ala) Unknown - VUS g.136974705T>C - - - KLHL3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1383G>A r.(?) p.(Glu461=) Unknown - benign g.136969793C>T g.137634104C>T - - KLHL3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1439G>A r.(?) p.(Arg480His) Unknown - VUS g.136969737C>T g.137634048C>T - - KLHL3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1480G>T r.(?) p.(Ala494Ser) Unknown - likely pathogenic g.136964097C>A g.137628408C>A - - KLHL3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1611G>T r.(=) p.(=) Parent #1 - benign g.136961566C>A g.137625877C>A - - KLHL3_000008 92 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17171525 Germline - 92/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 92 Mohammed Faruq
-/. - c.1611G>T r.(=) p.(=) Both (homozygous) - benign g.136961566C>A g.137625877C>A - - KLHL3_000008 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17171525 Germline - 1/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
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