Full data view for gene LRRC6

Information The variants shown are described using the NM_012472.4 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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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.31C>T r.(?) p.(Arg11Trp) Unknown - likely benign g.133673853G>A g.132661607G>A LRRC6(NM_012472.3):c.31C>T (p.(Arg11Trp)) - LRRC6_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.131G>A r.(?) p.(Arg44Gln) Parent #1 - VUS g.133673753C>T g.132661507C>T - - LRRC6_000012 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs184555568 Germline - 5/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
?/. - c.232A>G r.(?) p.(Ile78Val) Unknown - VUS g.133669100T>C - LRRC6(NM_012472.5):c.232A>G (p.I78V) - LRRC6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.234T>G r.(?) p.(Ile78Met) Both (homozygous) - likely pathogenic g.133669098A>C g.132656852A>C - - LRRC6_000014 - PubMed: Riazuddin 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID PKMR120 PubMed: Riazuddin 2017 - - - Pakistan Punjabi - - - - 1 Johan den Dunnen
-?/. - c.250T>C r.(?) p.(Leu84=) Unknown - likely benign g.133669082A>G g.132656836A>G LRRC6(NM_012472.5):c.250T>C (p.L84=) - LRRC6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.574C>G r.(?) p.(Gln192Glu) Unknown - likely benign g.133645065G>C - DNAAF11(NM_012472.6):c.574C>G (p.Q192E) - LRRC6_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? ? c.630del r.(?) p.(Trp210Cysfs*12) Both (homozygous) - likely pathogenic g.133645010del g.132632764del - - LRRC6_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - - - - - - - - - - - - - 1 Christopher Watson
+?/? ? c.630del r.(?) p.(Trp210Cysfs*12) Both (homozygous) - likely pathogenic g.133645010del g.132632764del - - LRRC6_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - - - - - - - - - - - - - 1 Christopher Watson
?/. - c.644A>G r.(?) p.(Asn215Ser) Unknown - VUS g.133644995T>C g.132632749T>C LRRC6(NM_012472.5):c.644A>G (p.N215S) - LRRC6_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.695C>T r.(?) p.(Thr232Ile) Unknown - benign g.133637659G>A g.132625413G>A DNAAF11(NM_012472.6):c.695C>T (p.T232I), LRRC6(NM_012472.5):c.695C>T (p.T232I) - LRRC6_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.695C>T r.(?) p.(Thr232Ile) Unknown - benign g.133637659G>A g.132625413G>A DNAAF11(NM_012472.6):c.695C>T (p.T232I), LRRC6(NM_012472.5):c.695C>T (p.T232I) - LRRC6_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.836+18A>G r.(=) p.(=) Unknown - likely benign g.133637500T>C g.132625254T>C LRRC6(NM_012472.5):c.836+18A>G - LRRC6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.863C>A r.(?) p.(Pro288His) Parent #1 - benign g.133634908G>T g.132622662G>T - - LRRC6_000008 15 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs76147813 Germline - 15/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 15 Mohammed Faruq
-/. - c.863C>A r.(?) p.(Pro288His) Both (homozygous) - benign g.133634908G>T g.132622662G>T - - LRRC6_000008 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs76147813 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.914+9G>A r.(=) p.(=) Unknown - VUS g.133634848C>T g.132622602C>T LRRC6(NM_012472.5):c.914+9G>A - LRRC6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1126_1129del r.(?) p.(Ile376Alafs*5) Unknown - pathogenic g.133622423_133622426del - DNAAF11(NM_001321965.2):c.766_769delATCT (p.I256Afs*5) - LRRC6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1226+6A>G r.(=) p.(=) Unknown - likely benign g.133595935T>C - LRRC6(NM_001321965.1):c.866+6A>G - LRRC6_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1255G>C r.(?) p.(Asp419His) Unknown - VUS g.133584700C>G g.132572452C>G DNAAF11(NM_001321965.2):c.895G>C (p.D299H) - LRRC6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1391C>T r.(?) p.(Pro464Leu) Parent #1 - VUS g.133584564G>A g.132572316G>A - - LRRC6_000011 conflicting interpretations of pathogenicity; 36 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs139131485 Germline - 36/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 36 Mohammed Faruq
-/. - c.1397T>C r.(?) p.(Ile466Thr) Unknown - benign g.133584558A>G g.132572310A>G LRRC6(NM_012472.5):c.1397T>C (p.I466T) - LRRC6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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