Full data view for gene LITAF

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_004862.3 transcript reference sequence.

63 entries on 1 page. Showing entries 1 - 63.
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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.44C>T r.(?) p.(Ser15Leu) Unknown - VUS g.11650543G>A g.11556687G>A LITAF(NM_004862.4):c.44C>T (p.S15L) - LITAF_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.44C>T r.(?) p.(Ser15Leu) Unknown - VUS g.11650543G>A - LITAF(NM_004862.4):c.44C>T (p.S15L) - LITAF_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.45A>G r.(?) p.(=) Unknown - benign g.11650542T>C - LITAF(NM_004862.3):c.45A>G (p.S15=), LITAF(NM_004862.4):c.45A>G (p.S15=) - LITAF_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.45A>G r.(?) p.(=) Unknown - likely benign g.11650542T>C - LITAF(NM_004862.3):c.45A>G (p.S15=), LITAF(NM_004862.4):c.45A>G (p.S15=) - LITAF_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.50C>T r.(?) p.(Pro17Leu) Unknown - VUS g.11650537G>A g.11556681G>A - - LITAF_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.134C>T r.(?) p.(Thr45Met) Unknown - VUS g.11650453G>A - LITAF(NM_004862.4):c.134C>T (p.T45M) - LITAF_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.146C>T r.(?) p.(Thr49Met) Maternal (inferred) - likely pathogenic g.11650441G>A g.11556585G>A - - LITAF_000004 not in 188 control chromosomes PubMed: Saifi 2005 - rs141862602 Germline - - - - - DNA SEQ - - CMT1C 15776429-FamHou552Pat1399 PubMed: Saifi 2005 2-generation family, affected mother/daughter F no United States - - - - - 2 Johan den Dunnen
-/. 3 c.220+38T>C r.(?) p.(=) Unknown - benign g.11650329A>G - - - LITAF_000014 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Saifi 2005 - - Germline - 167/360 chromosomes CMT, 167/360 control - - - DNA SEQ - - CMT - PubMed: Saifi 2005 - - - - - - - - - 1 Johan den Dunnen
-/. - c.222T>C r.(?) p.(Ile74=) Unknown - benign g.11647544A>G g.11553688A>G LITAF(NM_004862.4):c.222T>C (p.I74=) - LITAF_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.234G>A r.(?) p.(Thr78=) Unknown - benign g.11647532C>T g.11553676C>T LITAF(NM_004862.4):c.234G>A (p.T78=) - LITAF_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.234G>A r.(=) p.(=) Parent #1 - likely benign g.11647532C>T g.11553676C>T - - LITAF_000019 41 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs9282774 Germline - 41/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 41 Mohammed Faruq
-?/. - c.240C>T r.(?) p.(Tyr80=) Unknown - likely benign g.11647526G>A g.11553670G>A LITAF(NM_004862.4):c.240C>T (p.Y80=) - LITAF_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.251C>T r.(?) p.(Pro84Leu) Unknown - VUS g.11647515G>A g.11553659G>A - - LITAF_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.274A>G r.(?) p.(Ile92Val) Unknown - benign g.11647492T>C g.11553636T>C LITAF(NM_004862.4):c.274A>G (p.I92V) - LITAF_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.274A>G r.(?) p.(Ile92Val) Unknown - benign g.11647492T>C g.11553636T>C LITAF(NM_004862.4):c.274A>G (p.I92V) - LITAF_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 4 c.274A>G r.(?) p.(Ile92Val) Unknown - benign g.11647492T>C g.11553636T>C - - LITAF_000018 - PubMed: Saifi 2005 - - Germline - 57/384 chromosomes CMT, 34/188 controls - - - DNA SEQ - - CMT - PubMed: Saifi 2005 - - - - - - - - - 1 Johan den Dunnen
?/. - c.302A>G r.(?) p.(Lys101Arg) Unknown - VUS g.11647464T>C - LITAF(NM_004862.3):c.302A>G (p.K101R), LITAF(NM_004862.4):c.302A>G (p.K101R) - LITAF_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.302A>G r.(?) p.(Lys101Arg) Unknown - likely benign g.11647464T>C - LITAF(NM_004862.3):c.302A>G (p.K101R), LITAF(NM_004862.4):c.302A>G (p.K101R) - LITAF_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.330C>T r.(?) p.(Asn110=) Unknown - benign g.11647436G>A g.11553580G>A LITAF(NM_004862.4):c.330C>T (p.N110=) - LITAF_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.330C>T r.(?) p.(Asn110=) Unknown - likely benign g.11647436G>A g.11553580G>A - - LITAF_000017 not in 188 control chromosomes PubMed: Saifi 2005 - - Germline - 1/192 cases CMT - - - DNA SEQ - - CMT - PubMed: Saifi 2005 - - - - - - - - - 1 Johan den Dunnen
+/. - c.332C>G r.(?) p.(Ala111Gly) Unknown - pathogenic g.11647434G>C g.11553578G>C LITAF(NM_004862.4):c.332C>G (p.A111G) - LITAF_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.332C>G r.(?) p.(Ala111Gly) Unknown - pathogenic g.11647434G>C g.11553578G>C - - LITAF_000005 - PubMed: Latour 2006 - - Germline - - - - - DNA SEQ - - CMT1C - PubMed: Latour 2006 - - - - - - - - - 1 Johan den Dunnen
-/. - c.333C>T r.(?) p.(Ala111=) Unknown - benign g.11647433G>A g.11553577G>A LITAF(NM_004862.3):c.333C>T (p.A111=), LITAF(NM_004862.4):c.333C>T (p.A111=) - LITAF_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.333C>T r.(?) p.(Ala111=) Unknown - likely benign g.11647433G>A - LITAF(NM_004862.3):c.333C>T (p.A111=), LITAF(NM_004862.4):c.333C>T (p.A111=) - LITAF_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.334G>A r.(=) p.(Gly112Ser) Parent #1 - pathogenic g.11647432C>T g.11553576C>T - - LITAF_000001 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/. - c.334G>A r.(?) p.(Gly112Ser) Unknown - pathogenic g.11647432C>T g.11553576C>T LITAF(NM_004862.4):c.334G>A (p.G112S) - LITAF_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.334G>A r.(?) p.(Gly112Ser) Parent #1 - pathogenic g.11647432C>T g.11553576C>T - - LITAF_000006 - PubMed: Street 2003 - - Germline yes - - - - DNA SEQ - - CMT1C 12525712-FamK1551 PubMed: Street 2003 5-generation family, 26 affecteds (11F, 15M) F;M no England - - - - - 26 Johan den Dunnen
+/. - c.334G>A r.(?) p.(Gly112Ser) Paternal (confirmed) - pathogenic g.11647432C>T g.11553576C>T - - LITAF_000001 - PubMed: Saifi 2005 - - Germline yes - - - - DNA SEQ - - CMT 15776429-FamHou537Pat1371 PubMed: Saifi 2005 3-generation family, 6 affected (3F, 3M) F;M no United States - - - - - 6 Johan den Dunnen
+/. - c.334G>A r.(?) p.(Gly112Ser) Unknown - pathogenic g.11647432C>T g.11553576C>T - - LITAF_000001 - PubMed: Saifi 2005 - - Germline/De novo (untested) - - - - - DNA SEQ - - CMT 15776429-FamHou552Pat1339 PubMed: Saifi 2005 2-generation family, affected boy M yes United States - - - - - 1 Johan den Dunnen
+/. - c.334G>A r.(?) p.(Gly112Ser) Unknown - pathogenic (dominant) g.11647432C>T g.11553576C>T - - LITAF_000001 - PubMed: Antoniadi 2015 - rs104894519 Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT Pat-LITAF-a PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.334G>A r.(?) p.(Gly112Ser) Unknown - pathogenic (dominant) g.11647432C>T g.11553576C>T - - LITAF_000001 - PubMed: Antoniadi 2015 - rs104894519 Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT Pat-LITAF-b PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.334G>A r.(?) p.(Gly112Ser) Unknown - pathogenic (dominant) g.11647432C>T g.11553576C>T - - LITAF_000001 - PubMed: Antoniadi 2015 - rs104894519 Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT Pat-LITAF-c PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.344C>A r.(?) p.(Thr115Asn) Unknown - pathogenic g.11647422G>T g.11553566G>T LITAF(NM_004862.4):c.344C>A (p.T115N) - LITAF_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.344C>A r.(?) p.(Thr115Asn) Parent #1 - pathogenic g.11647422G>T g.11553566G>T - - LITAF_000007 - PubMed: Street 2003 - - Germline yes - - - - DNA SEQ - - CMT1C 12525712-FamK1550 PubMed: Street 2003 4-generation family, 20 affected (8F, 12M) F;M no Ireland - - - - - 20 Johan den Dunnen
+/. - c.346T>G r.(?) p.(Trp116Gly) Unknown - pathogenic g.11647420A>C g.11553564A>C LITAF(NM_004862.4):c.346T>G (p.W116G) - LITAF_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.346T>G r.(?) p.(Trp116Gly) Parent #1 - pathogenic g.11647420A>C g.11553564A>C - - LITAF_000008 - PubMed: Street 2003 - - Germline yes - - - - DNA SEQ - - CMT1C 125257120FamK2900 PubMed: Street 2003 4-generation family, 6 affecteds (5F, M) F;M no Netherlands - - - - - 6 Johan den Dunnen
-/. - c.357C>T r.(?) p.(=) Unknown - benign g.11647409G>A - LITAF(NM_001136473.1):c.357C>T (p.C119=) - LITAF_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.364C>G r.(?) p.(Leu122Val) Unknown - pathogenic g.11647402G>C g.11553546G>C LITAF(NM_004862.4):c.364C>G (p.L122V) - LITAF_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.364C>G r.(?) p.(Leu122Val) Unknown - pathogenic g.11647402G>C g.11553546G>C - - LITAF_000009 - PubMed: Saifi 2005 - - Germline/De novo (untested) - - - - - DNA SEQ - - CMT1C 15776429-FamHou791Pat2104 PubMed: Saifi 2005 2-generation family, 1 affected F no United States - - - - - 1 Johan den Dunnen
-?/. - c.377+1716C>T r.(=) p.(=) Unknown - likely benign g.11645673G>A g.11551817G>A LITAF(NM_004862.4):c.377+1716C>T - LITAF_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.377+1760C>T r.(=) p.(=) Unknown - benign g.11645629G>A g.11551773G>A LITAF(NM_001136473.1):c.409C>T (p.R137C) - LITAF_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.377+1763A>G r.(=) p.(=) Unknown - benign g.11645626T>C g.11551770T>C LITAF(NM_001136473.1):c.412A>G (p.S138G) - LITAF_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.377+1782C>T r.(=) p.(=) Unknown - likely benign g.11645607G>A g.11551751G>A LITAF(NM_001136473.1):c.431C>T (p.S144F) - LITAF_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 4 c.378-29C>T r.(?) p.(=) Unknown - benign g.11643630G>A - - - LITAF_000013 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Saifi 2005 - - Germline - 57/384 chromosomes CMT, 20/182 controls - - - DNA SEQ - - CMT - PubMed: Saifi 2005 - - - - - - - - - 1 Johan den Dunnen
+/. - c.403C>A r.(?) p.(Pro135Thr) Unknown - pathogenic g.11643576G>T g.11549720G>T LITAF(NM_004862.4):c.403C>A (p.P135T) - LITAF_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.403C>A r.(?) p.(Pro135Thr) Unknown - pathogenic g.11643576G>T g.11549720G>T - - LITAF_000010 - PubMed: Latour 2006 - - Germline - - - - - DNA SEQ - - CMT1C - PubMed: Latour 2006 - - - - - - - - - 1 Johan den Dunnen
+?/. 4 c.403C>G r.(?) p.(Pro135Ala) Unknown ACMG likely pathogenic g.11643576C>G g.11549720G>C - - LITAF_000035 - - - - Germline yes - - - - DNA SEQ-NG - - HMSN - - - M - Germany - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
+/. - c.403C>T r.(?) p.(Pro135Ser) Unknown - pathogenic g.11643576G>A g.11549720G>A LITAF(NM_004862.4):c.403C>T (p.P135S) - LITAF_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.403C>T r.(?) p.(Pro135Ser) Unknown - pathogenic g.11643576G>A g.11549720G>A - - LITAF_000011 - PubMed: Latour 2006 - - Germline - - - - - DNA SEQ - - CMT1C - PubMed: Latour 2006 - - - - - - - - - 1 Johan den Dunnen
?/. - c.418G>C r.(?) p.(Ala140Pro) Unknown - VUS g.11643561C>G - - - LITAF_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.428A>G r.(?) p.(Asp143Gly) Unknown - VUS g.11643551T>C g.11549695T>C LITAF(NM_004862.4):c.428A>G (p.D143G) - LITAF_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.430G>A r.(?) p.(Val144Met) Unknown - pathogenic g.11643549C>T g.11549693C>T - - LITAF_000012 - PubMed: Gerding 2009 - - Germline - - - - - DNA SEQ - - CMT1C - PubMed: Gerding 2009 - - - - - - - - - 1 Johan den Dunnen
-/. - c.477G>A r.(?) p.(Lys159=) Unknown - benign g.11643502C>T g.11549646C>T LITAF(NM_004862.4):c.477G>A (p.K159=) - LITAF_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 3 c.477G>A r.(?) p.(Lys159=) Unknown - likely benign g.11643502C>T g.11549646C>T - - LITAF_000016 not in 182 control chromosomes PubMed: Saifi 2005 - - Germline - 1/192 cases CMT - - - DNA SEQ - - CMT - PubMed: Saifi 2005 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.*13C>T r.(=) p.(=) Unknown - likely benign g.11643480G>A - LITAF(NM_001136472.1):c.*13C>T (p.?) - LITAF_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*53C>G r.(=) p.(=) Unknown - benign g.11643440G>C g.11549584G>C LITAF(NR_024320.2):n.673C>G - LITAF_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 3 c.*53C>G r.(?) p.(=) Unknown - likely benign g.11643440G>C g.11549584G>C 539C>G - LITAF_000025 not in 182 control chromosomes PubMed: Saifi 2005 - - Germline - 1/192 cases CMT - - - DNA SEQ - - CMT - PubMed: Saifi 2005 - - - - - - - - - 1 Johan den Dunnen
-/. - c.*99C>T r.(=) p.(=) Unknown - benign g.11643394G>A g.11549538G>A LITAF(NR_024320.2):n.719C>T - LITAF_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 3 c.*99C>T r.(?) p.(=) Unknown - likely benign g.11643394G>A g.11549538G>A 585C>T - LITAF_000024 not in 182 control chromosomes PubMed: Saifi 2005 - - Germline - 5/192 cases CMT - - - DNA SEQ - - CMT - PubMed: Saifi 2005 - - - - - - - - - 5 Johan den Dunnen
-/. - c.*143C>T r.(=) p.(=) Unknown - benign g.11643350G>A g.11549494G>A LITAF(NR_024320.2):n.763C>T - LITAF_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 3 c.*143C>T r.(?) p.(=) Unknown - likely benign g.11643350G>A g.11549494G>A 629C>T - LITAF_000023 not in 182 control chromosomes PubMed: Saifi 2005 - - Germline - 4/192 cases CMT - - - DNA SEQ - - CMT - PubMed: Saifi 2005 - - - - - - - - - 3 Johan den Dunnen
+/. - c.*185T>C r.(=) p.(=) Unknown - pathogenic g.11643308A>G g.11549452A>G LITAF(NR_024320.2):n.805T>C - LITAF_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*185T>C r.(=) p.(=) Unknown - likely pathogenic g.11643308A>G g.11549452A>G 671T>C - LITAF_000022 not in 182 control chromosomes PubMed: Saifi 2005 - - Germline - - - - - DNA SEQ - - CMT 15776429-FamHou546Pat1386 PubMed: Saifi 2005 4-generation family, 1 affected F no United States - - - - - 1 Johan den Dunnen
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