Full data view for gene KITLG

Information The variants shown are described using the NM_000899.4 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
Legend   How to query  

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     
+/. _1 c.-354280A>G r.(=) p.(=) Parent #1 - NA g.89328335T>C g.88934558T>C - - KITLG_000001 reduced LEF1 binding; KITLG expression 20% reduced in hair follicles; influences hair pigmentation, shift towards blond PubMed: Guenther 2014 - rs12821256 In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-354280A>G r.(=) p.(=) Unknown - VUS g.89328335T>C g.88934558T>C - - KITLG_000001 variant frequency 0.80, 0.63 and 0.03 in CEU, East Asian and YRI HapMap samples PubMed: Sulem 2007, OMIM:var0001 - rs12821256 Not applicable - - - - - DNA arraySNP - - assoc., SHEP7 - PubMed: Sulem 2007 - - - Iceland;Netherlands - - - - - 1 Johan den Dunnen
?/. _1 c.-354280A>G r.(=) p.(=) Unknown - VUS g.89328335T>C g.88934558T>C - - KITLG_000001 on 30 unit melanin scale (West African vs. European skin) 1 allele reduces ˜3.8 units (homozygotes 6-7 units); A allele 0.92 in West Africans, 0.14 in Europeans/East Asians PubMed: Miller 2007, {OMIM184745:0002) - rs642742 Germline yes - - - - DNA arraySNP - - assoc. - PubMed: Miller 2007 - - - United States African, white - - - - 1 Johan den Dunnen
+?/. 2 c.94C>T r.(?) p.(Arg32Cys) Both (homozygous) ACMG likely pathogenic (recessive) g.88939564G>A - - - KITLG_000019 - PubMed: Vona 2022, Journal: Vona 2022 - - Germline yes - - - - DNA SEQ-NG-I - - WS - PubMed: Vona 2022, Journal: Vona 2022 - M yes Iran - - - - - 1 Barbara Vona
+?/. 2 c.94C>T r.(?) p.(Arg32Cys) Both (homozygous) ACMG likely pathogenic (recessive) g.88939564G>A - - - KITLG_000019 - PubMed: Vona 2022, Journal: Vona 2022 - - Germline yes - - - - DNA SEQ-NG - Genome sequencing WS - PubMed: Vona 2022, Journal: Vona 2022 - F yes - - - - - - 1 Barbara Vona
+/+ 2 c.98T>C r.(?) p.(Val33Ala) Parent #1 - pathogenic g.88939560A>G g.88545783A>G - - KITLG_000014 - MORL Deafness Variation Database, PubMed: Amyere 2011, PubMed: Hoo 2005 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Amyere 2011, PubMed: Hoo 2005 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 2 c.100A>C r.(?) p.(Thr34Pro) Parent #1 - pathogenic g.88939558T>G g.88545781T>G - - KITLG_000013 - MORL Deafness Variation Database, PubMed: Amyere 2011 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Amyere 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.103A>G r.(?) p.(Asn35Asp) Unknown - likely benign g.88939555T>C - KITLG(NM_000899.4):c.103A>G (p.N35D) - KITLG_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.107A>G r.(?) p.(Asn36Ser) Parent #1 - pathogenic g.88939551T>C g.88545774T>C - - KITLG_000002 mapped by linkage; not in 592 control chromosomes PubMed: Wang 2007, OMIM:var0003 - rs121918653 Germline yes - - - - DNA SEQ - - FPHH - PubMed: Wang 2009 6-generation family, 18 affecteds (9F, 9M) - no China - - - - - 18 Johan den Dunnen
+/. 2 c.107A>G r.(?) p.Asn36Ser Unknown - NA g.88939551T>C g.88545774T>C - - KITLG_000002 expression cloning A375 human pigmented melanoma cells doubles melanin content (2.09) PubMed: Wang 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.107A>G r.(?) p.(Asn36Ser) Parent #1 - pathogenic g.88939551T>C g.88545774T>C - - KITLG_000002 - MORL Deafness Variation Database, PubMed: Amyere 2011, PubMed: Zanardo 2004, PubMed: Wang 2009 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Amyere 2011, PubMed: Zanardo 2004, PubMed: Wang 2009 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.129+5G>A r.spl? p.? Unknown - VUS g.88939524C>T - - - KITLG_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.177C>T r.(?) p.(Pro59=) Unknown - likely benign g.88926233G>A g.88532456G>A KITLG(NM_000899.4):c.177C>T (p.P59=) - KITLG_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.178G>A r.(?) p.(Gly60Arg) Unknown - VUS g.88926232C>T - KITLG(NM_000899.5):c.178G>A (p.(Gly60Arg)) - KITLG_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.200_202del r.(?) p.(His67_Cys68delinsArg) Parent #1 - pathogenic g.88912635_88912637del g.88518858_88518860del - - KITLG_000004 - PubMed: Zeco 2015, Journal: Zeco 2015 - - Germline yes - - - - DNA PCR blood - DFNA1 - PubMed: Zeco 2015, Journal: Zeco 2015 3-generation family, 3 affecteds (grand mother, son, grandson) F;M no Spain - - - - - 3 Helger Yntema
+/+ 4 c.200_202del r.(?) p.(His67_Cys68delinsArg) Parent #1 - pathogenic g.88912635_88912637del g.88518858_88518860del - - KITLG_000004 - MORL Deafness Variation Database, PubMed: Zazo Seco 2015 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Zazo Seco 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.285G>A r.(?) p.(Leu95=) Unknown - likely benign g.88912552C>T - KITLG(NM_000899.4):c.285G>A (p.L95=) - KITLG_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.286_303delinsT r.(?) p.(Ser96*) Parent #1 - pathogenic g.88912534_88912551delinsA g.88518757_88518774delinsA - - KITLG_000005 - PubMed: Zeco 2015, Journal: Zeco 2015 - - Germline yes - - - - DNA SEQ-NG blood - DFNA1 - PubMed: Zeco 2015, Journal: Zeco 2015 5-generation family, 13 affecteds (7F, 6M) F;M no Netherlands - - - - - 13 Helger Yntema
+/. 4 c.310C>G r.(?) p.(Leu104Val) Maternal (confirmed) - pathogenic g.88912527G>C g.88518750G>C - - KITLG_000003 - PubMed: Zeco 2015, Journal: Zeco 2015 - - Germline yes - - - - DNA PCR blood - WS2A - PubMed: Zeco 2015, Journal: Zeco 2015 2-generation family, affected male and heterozygous carrier mother (phenotype unknown) M no Netherlands - - - - - 1 Helger Yntema
?/? 4 c.310C>G r.(?) p.(Leu104Val) Parent #1 - VUS g.88912527G>C g.88518750G>C - - KITLG_000003 - MORL Deafness Variation Database, PubMed: Zazo Seco 2015 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Zazo Seco 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. 5 c.443T>C r.(?) p.(Ile148Thr) Both (homozygous) ACMG likely pathogenic (recessive) g.88910188A>G - - - KITLG_000023 - PubMed: Vona 2022, Journal: Vona 2022 - - Germline yes - - - - DNA SEQ-NG-I - Clinical exome sequencing WS - PubMed: Vona 2022, Journal: Vona 2022 - F yes - - - - - - 1 Barbara Vona
-?/. - c.542A>G r.(?) p.(Lys181Arg) Unknown - likely benign g.88909373T>C g.88515596T>C KITLG(NM_000899.4):c.542A>G (p.(Lys181Arg)) - KITLG_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.550_551del r.(?) p.(Met184Valfs*10) Both (homozygous) ACMG likely pathogenic (recessive) g.88909365_88909366del g.88515588_88515589del - - KITLG_000021 - PubMed: Vona 2022, Journal: Vona 2022 - - Germline yes - - - - DNA SEQ-NG - Genome sequencing ? - PubMed: Vona 2022, Journal: Vona 2022 - F yes - - - - - - 1 Barbara Vona
?/. - c.584A>T r.(?) p.(Asn195Ile) Unknown - VUS g.88909331T>A g.88515554T>A KITLG(NM_000899.4):c.584A>T (p.N195I) - KITLG_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.603T>C r.(?) p.(Asn201=) Unknown - likely benign g.88909312A>G g.88515535A>G KITLG(NM_000899.4):c.603T>C (p.N201=) - KITLG_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.644G>A r.(?) p.(Trp215*) Both (homozygous) ACMG likely pathogenic (recessive) g.88900875C>T - - - KITLG_000022 - PubMed: Vona 2022, Journal: Vona 2022 - - Germline yes - - - - DNA SEQ-NG-I - Exome sequencing OCA - PubMed: Vona 2022, Journal: Vona 2022 - M yes - - - - - - 1 Barbara Vona
-?/. - c.699A>G r.(?) p.(Gly233=) Unknown - likely benign g.88900820T>C g.88507043T>C KITLG(NM_000899.4):c.699A>G (p.G233=) - KITLG_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.715-2A>G r.spl p.? Unknown - likely pathogenic (dominant) g.88900157T>C g.88506380T>C - - KITLG_000025 - PubMed: Boucher 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - HL 6403 PubMed: Boucher 2020 - - - France - - - - - 1 Johan den Dunnen
?/. - c.802_807del r.(?) p.(Arg268_Glu269del) Unknown - VUS g.88898992_88898997del - KITLG(NM_000899.5):c.802_807delAGAGAG (p.R268_E269del) - KITLG_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 9 c.804_8807del r.(?) p.(Arg268Serfs*29) Unknown ACMG VUS (!) g.88898994_88898997del g.88505217_88505220del - - KITLG_000020 Child is adopted without opportunity to test variant in parents. PubMed: Vona 2022, Journal: Vona 2022 - - Unknown ? - - - - DNA SEQ-NG - Twist Human Core Exome Plus WS - PubMed: Vona 2022, Journal: Vona 2022 - F ? - - - - - - 1 Barbara Vona
-?/. - c.808T>C r.(?) p.(Phe270Leu) Unknown - likely benign g.88898987A>G g.88505210A>G KITLG(NM_000899.4):c.808T>C (p.(Phe270Leu)) - KITLG_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*325T>C r.(=) p.(=) Unknown - benign g.88890671A>G - - - KITLG_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*475G>A r.(=) p.(=) Unknown - benign g.88890521C>T - - - KITLG_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.