Full data view for gene LINS

NOTE: gene name changed from LINS to LINS1
Information The variants shown are described using the NM_001040616.2 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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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.68del r.(?) p.(Asn23MetfsTer25) Both (homozygous) ACMG pathogenic (recessive) g.101120983del g.100580778del - - LINS_000016 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M327 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes - Kurd - - - - 2 Johan den Dunnen
-?/. - c.312G>A r.(?) p.(Leu104=) Unknown - likely benign g.101120736C>T - LINS1(NM_001040616.2):c.312G>A (p.L104=) - LINS_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.918C>A r.(?) p.(Cys306*) Maternal (confirmed) - VUS g.101114160G>T - - - LINS_000017 - - - - Germline - - - - - DNA SEQ-NG - WES MRT27 034P1 family, 2 affected - M no Spain - - - - - 2 Alejandro Brea-Fernández
?/. - c.918C>A r.(?) p.(Cys306*) Maternal (confirmed) - VUS g.101114160G>T - - - LINS_000017 - - - - Germline - - - - - DNA SEQ-NG - WES MRT27 034P2 - - M no Spain - - - - - 1 Alejandro Brea-Fernández
+/. - c.982_985del r.(?) p.(His328MetfsTer2) Both (homozygous) ACMG pathogenic (recessive) g.101114094_101114097del g.100573889_100573892del - - LINS_000015 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M252 PubMed: Hu 2019 family, 3 affected individuals, first cousin parents - yes Iran Persia - - - - 3 Johan den Dunnen
-?/. - c.1124C>T r.(?) p.(Thr375Ile) Unknown - likely benign g.101113954G>A g.100573749G>A LINS(NM_001040616.2):c.1124C>T (p.(Thr375Ile)), LINS1(NM_001040616.2):c.1124C>T (p.T375I) - LINS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1124C>T r.(?) p.(Thr375Ile) Unknown - likely benign g.101113954G>A g.100573749G>A LINS(NM_001040616.2):c.1124C>T (p.(Thr375Ile)), LINS1(NM_001040616.2):c.1124C>T (p.T375I) - LINS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1194A>G r.(?) p.(Gln398=) Unknown - likely benign g.101113884T>C - LINS1(NM_001352507.1):c.447A>G (p.Q149=) - LINS_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1394+1G>T r.spl p.? Parent #1 ACMG likely pathogenic (recessive) g.101112098C>A g.100571893C>A - - LINS_000011 - PubMed: Helbig 2016 - - Germline - - - - - DNA SEQ-NG - WES seizures Pat60 PubMed: Helbig 2016 - - - United States - - - - - 1 Johan den Dunnen
+?/. - c.1529T>C r.(?) p.(Leu510Pro) Both (homozygous) - VUS g.101110188A>G g.100569983A>G - - LINS_000020 - PubMed: Al-Kasbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID 10DK7200 PubMed: Al-Kasbi 2022 patient, other affecteds in family M - Oman - - - - - 1 Johan den Dunnen
+?/. - c.1534T>G r.(?) p.(Phe512Val) Both (homozygous) - VUS g.101110183A>C g.100569978A>C - - LINS_000019 - PubMed: Al-Kasbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID 10DK7200 PubMed: Al-Kasbi 2022 patient, other affecteds in family M - Oman - - - - - 1 Johan den Dunnen
?/. - c.1538del r.(?) p.(Leu513*) Unknown - VUS g.101110183del - LINS(NM_001040616.2):c.1538delT (p.(Leu513fs)) - LINS_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1592T>C r.(?) p.(Leu531Pro) Paternal (confirmed) - likely pathogenic (recessive) g.101110125A>G - - - LINS_000018 - - - - Germline - - - - - DNA SEQ-NG - WES MRT27 034P1 family, 2 affected - M no Spain - - - - - 2 Alejandro Brea-Fernández
+?/. - c.1592T>C r.(?) p.(Leu531Pro) Paternal (confirmed) - likely pathogenic (recessive) g.101110125A>G - - - LINS_000018 - - - - Germline - - - - - DNA SEQ-NG - WES MRT27 034P2 - - M no Spain - - - - - 1 Alejandro Brea-Fernández
+/. - c.1605G>A r.(?) p.(Trp535Ter) Unknown - pathogenic g.101110112C>T g.100569907C>T LINS(NM_001040616.2):c.1605G>A (p.W535*) - LINS_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1621A>G r.(?) p.(Ile541Val) Parent #1 - benign g.101110096T>C g.100569891T>C - - LINS_000006 205 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs12915007 Germline - 205/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 205 Mohammed Faruq
-/. - c.1621A>G r.(?) p.(Ile541Val) Both (homozygous) - benign g.101110096T>C g.100569891T>C - - LINS_000006 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs12915007 Germline - 3/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
-?/. - c.1813A>G r.(?) p.(Met605Val) Unknown - likely benign g.101109904T>C g.100569699T>C LINS1(NM_001040616.2):c.1813A>G (p.M605V) - LINS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1909G>A r.(?) p.(Val637Met) Unknown - likely benign g.101109808C>T - LINS1(NM_001352507.1):c.1162G>A (p.V388M) - LINS_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2020dup r.(?) p.(Ser674Lysfs*3) Parent #2 ACMG likely pathogenic (recessive) g.101109697dup g.100569492dup 2020dupA - LINS_000010 - PubMed: Helbig 2016 - - Germline - - - - - DNA SEQ-NG - WES seizures Pat60 PubMed: Helbig 2016 - - - United States - - - - - 1 Johan den Dunnen
-?/. - c.2034A>G r.(=) p.(=) Parent #1 - likely benign g.101109683T>C g.100569478T>C - - LINS_000009 17 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1047320 Germline - 17/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 17 Mohammed Faruq
-?/. - c.2119G>A r.(?) p.(Gly707Arg) Unknown - likely benign g.101109598C>T g.100569393C>T LINS(NM_001040616.2):c.2119G>A (p.(Gly707Arg)), LINS1(NM_001040616.2):c.2119G>A (p.G707R) - LINS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2119G>A r.(?) p.(Gly707Arg) Unknown - likely benign g.101109598C>T g.100569393C>T LINS(NM_001040616.2):c.2119G>A (p.(Gly707Arg)), LINS1(NM_001040616.2):c.2119G>A (p.G707R) - LINS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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