Full data view for gene LTBP1

Information The variants shown are described using the NM_206943.2 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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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.-5571984_*28457569dup r.0? p.0? Unknown - VUS g.27600408_62081181dup - chr2:27600408–62081181 - FSHR_000025 - PubMed: Ellingsford 2018 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.20G>T r.(?) p.(Arg7Met) Unknown - VUS g.33172411G>T - LTBP1(NM_206943.4):c.20G>T (p.(Arg7Met)) - LTBP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.34C>T r.(?) p.(Leu12Phe) Unknown - likely benign g.33172425C>T - LTBP1(NM_206943.2):c.34C>T (p.(Leu12Phe)) - LTBP1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.185A>G r.(?) p.(Tyr62Cys) Unknown - VUS g.33172576A>G - LTBP1(NM_206943.4):c.185A>G (p.(Tyr62Cys)) - LTBP1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.310_318dup r.(?) p.(Pro104_Pro106dup) Unknown - VUS g.33172701_33172709dup - LTBP1(NM_206943.4):c.310_318dup (p.(Pro104_Pro106dup)) - LTBP1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.313_318dup r.(?) p.(Pro105_Pro106dup) Unknown - VUS g.33172704_33172709dup - LTBP1(NM_206943.2):c.313_318dupCCGCCG (p.(Pro105_Pro106dup)) - LTBP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.316_318dup r.(?) p.(Pro106dup) Unknown - VUS g.33172707_33172709dup - LTBP1(NM_206943.4):c.316_318dup (p.(Pro106dup)) - LTBP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.408G>C r.(?) p.(Arg136Ser) Unknown - VUS g.33172799G>C - LTBP1(NM_206943.4):c.408G>C (p.(Arg136Ser)) - LTBP1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.436G>A r.(?) p.(Glu146Lys) Unknown - likely benign g.33172827G>A - LTBP1(NM_206943.2):c.436G>A (p.(Glu146Lys)) - LTBP1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.494+1G>A r.spl? p.? Unknown - likely pathogenic g.33172886G>A - LTBP1(NM_206943.4):c.494+1G>A - LTBP1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.552G>A r.(552g>a) p.(Gln184=) Unknown - VUS g.33173999G>A g.32948932G>A - - LTBP1_000003 - - - - De novo - - - - - DNA SEQ-NG blood - OPLL - - - - - China Han - - - - 1 Xiaochen Qu
?/. 2 c.553A>T r.(553a>u) p.(Arg185Trp) Unknown - VUS g.33174000A>T g.32948933A>T - - LTBP1_000002 - - - - De novo - - - - - DNA SEQ-NG blood - OPLL - - - - - China Han - - - - 1 Xiaochen Qu
-?/. - c.736G>A r.(?) p.(Glu246Lys) Unknown - likely benign g.33246146G>A - LTBP1(NM_206943.4):c.736G>A (p.(Glu246Lys)) - LTBP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.824C>T r.(?) p.(Pro275Leu) Unknown - likely benign g.33246234C>T - LTBP1(NM_206943.4):c.824C>T (p.(Pro275Leu)) - LTBP1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.847C>G r.(?) p.(Gln283Glu) Unknown - VUS g.33246257C>G - LTBP1(NM_206943.4):c.847C>G (p.(Gln283Glu)) - LTBP1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.902A>G r.(?) p.(His301Arg) Unknown - likely benign g.33335687A>G - LTBP1(NM_206943.2):c.902A>G (p.(His301Arg)) - LTBP1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1034-8G>T r.(=) p.(=) Unknown - likely benign g.33359852G>T - LTBP1(NM_206943.4):c.1034-8G>T - LTBP1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1342C>T r.(?) p.(Gln448Ter) Both (homozygous) - pathogenic (recessive) g.33412063C>T g.33186996C>T - - LTBP1_000010 - PubMed: Pottie 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES cutis laxa Fam4PatII1 PubMed: Pottie 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - 1 Johan den Dunnen
?/. - c.1603C>T r.(?) p.(His535Tyr) Unknown - VUS g.33413820C>T - LTBP1(NM_206943.4):c.1603C>T (p.(His535Tyr)) - LTBP1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1626G>C r.(?) p.(Gln542His) Unknown - likely benign g.33413843G>C - LTBP1(NM_206943.4):c.1626G>C (p.(Gln542His)) - LTBP1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1979C>T r.(?) p.(Pro660Leu) Unknown - VUS g.33468831C>T - LTBP1(NM_206943.4):c.1979C>T (p.(Pro660Leu)) - LTBP1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2056G>A r.(?) p.(Gly686Arg) Unknown - VUS g.33477800G>A - LTBP1(NM_206943.4):c.2056G>A (p.(Gly686Arg)) - LTBP1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2167+16C>T r.(?) p.(?) Unknown - likely benign g.33477927C>T - - - LTBP1_000035 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2167+16_2167+20delinsTTGTT r.(?) p.(?) Unknown - likely benign g.33477927_33477931delinsTTGTT - - - LTBP1_000036 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2167+20A>T r.(?) p.(?) Unknown - likely benign g.33477931A>T - - - LTBP1_000037 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2407C>G r.(?) p.(Pro803Ala) Unknown - likely benign g.33484666C>G - LTBP1(NM_206943.4):c.2407C>G (p.(Pro803Ala)) - LTBP1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2503C>A r.(?) p.(His835Asn) Unknown - likely benign g.33487873C>A - LTBP1(NM_000627.3):c.1525C>A (p.(His509Asn)) - LTBP1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2540C>T r.(?) p.(Pro847Leu) Unknown - VUS g.33488382C>T - LTBP1(NM_206943.4):c.2540C>T (p.(Pro847Leu)) - LTBP1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2870-10del r.(=) p.(=) Unknown - likely benign g.33500858del - LTBP1(NM_206943.4):c.2870-10del - LTBP1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2870-8C>T r.(=) p.(=) Unknown - likely benign g.33500860C>T - LTBP1(NM_206943.4):c.2870-8C>T - LTBP1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2993-8T>G r.(=) p.(=) Unknown - VUS g.33505098T>G - LTBP1(NM_206943.4):c.2993-8T>G - LTBP1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3026C>A r.(?) p.(Pro1009Gln) Unknown - likely benign g.33505139C>A g.33280072C>A LTBP1(NM_000627.3):c.2048C>A (p.(Pro683Gln)) - LTBP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3062A>T r.(?) p.(Gln1021Leu) Unknown - VUS g.33505175A>T - LTBP1(NM_206943.4):c.3062A>T (p.(Gln1021Leu)) - LTBP1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3063G>T r.(?) p.(Gln1021His) Unknown - likely benign g.33505176G>T - LTBP1(NM_206943.4):c.3063G>T (p.(Gln1021His)) - LTBP1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3130G>A r.(?) p.(Glu1044Lys) Unknown - likely benign g.33518244G>A - LTBP1(NM_206943.4):c.3130G>A (p.(Glu1044Lys)) - LTBP1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3358+9G>T r.(=) p.(=) Unknown - VUS g.33525649G>T - LTBP1(NM_206943.4):c.3358+9G>T - LTBP1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3359-14T>C r.(?) p.(?) Unknown - likely benign g.33526575T>C - - - LTBP1_000052 - - - rs182152040 Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3431G>A r.(?) p.(Cys1144Tyr) Unknown - VUS g.33526661G>A g.33301594G>A LTBP1(NM_000627.3):c.2453G>A (p.(Cys818Tyr)) - LTBP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3540dup r.(?) p.(Ala1181Cysfs*5) Unknown - VUS g.33534559dup - - - LTBP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3797C>T r.(?) p.(Ser1266Phe) Unknown - likely benign g.33567971C>T g.33342904C>T LTBP1(NM_000627.3):c.2819C>T (p.(Ser940Phe)) - LTBP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3815A>G r.(?) p.(Tyr1272Cys) Unknown - VUS g.33567989A>G - LTBP1(NM_206943.4):c.3815A>G (p.(Tyr1272Cys)) - LTBP1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3856+3G>C r.spl? p.? Unknown - VUS g.33568033G>C - LTBP1(NM_206943.4):c.3856+3G>C - LTBP1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3983G>A r.(?) p.(Arg1328His) Unknown - VUS g.33572560G>A - LTBP1(NM_206943.4):c.3983G>A (p.(Arg1328His)) - LTBP1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3991dup r.(?) p.(Thr1331AsnfsTer22) Both (homozygous) - pathogenic (recessive) g.33572568dup g.33347501dup 3991_3995del, corrected - LTBP1_000011 - PubMed: Pottie 2021, PubMed: Pottie 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES cutis laxa Fam3PatII1 PubMed: Pottie 2021 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes Pakistan - - - - - 2 Johan den Dunnen
+/. - c.3991dup r.(?) p.(Thr1331AsnfsTer22) Both (homozygous) - pathogenic (recessive) g.33572568dup g.33347501dup 3991_3995del, corrected - LTBP1_000011 - PubMed: Pottie 2021, PubMed: Pottie 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES cutis laxa Fam3PatII2 PubMed: Pottie 2021 sister F yes Pakistan - - - - - 1 Johan den Dunnen
?/. - c.4001-7C>T r.(=) p.(=) Unknown - VUS g.33585657C>T - LTBP1(NM_206943.4):c.4001-7C>T - LTBP1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4285C>A r.(?) p.(Leu1429Ile) Unknown - VUS g.33588471C>A - LTBP1(NM_206943.4):c.4285C>A (p.(Leu1429Ile)) - LTBP1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4431T>A r.(?) p.(Cys1477Ter) Both (homozygous) - pathogenic (recessive) g.33589314T>A g.33364247T>A - - LTBP1_000012 - PubMed: Pottie 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES cutis laxa Fam2PatV3 PubMed: Pottie 2021 5-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives F yes Pakistan - - - - - 5 Johan den Dunnen
+/. - c.4431T>A r.(?) p.(Cys1477Ter) Both (homozygous) - pathogenic (recessive) g.33589314T>A g.33364247T>A - - LTBP1_000012 - PubMed: Pottie 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES cutis laxa Fam2PatV4 PubMed: Pottie 2021 - F yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.4431T>A r.(?) p.(Cys1477Ter) Both (homozygous) - pathogenic (recessive) g.33589314T>A g.33364247T>A - - LTBP1_000012 - PubMed: Pottie 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES cutis laxa Fam2PatV8 PubMed: Pottie 2021 - M yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.4431T>A r.(?) p.(Cys1477Ter) Both (homozygous) - pathogenic (recessive) g.33589314T>A g.33364247T>A - - LTBP1_000012 - PubMed: Pottie 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES cutis laxa Fam2PatV9 PubMed: Pottie 2021 - F yes Pakistan - - - - - 1 Johan den Dunnen
?/. - c.4526C>T r.(?) p.(Pro1509Leu) Unknown - VUS g.33589409C>T - LTBP1(NM_206943.4):c.4526C>T (p.P1509L) - LTBP1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4801A>G r.(?) p.(Thr1601Ala) Unknown - likely benign g.33614340A>G g.33389273A>G LTBP1(NM_206943.3):c.4801A>G (p.T1601A) - LTBP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4834+9A>G r.(=) p.(=) Unknown - VUS g.33614382A>G - LTBP1(NM_206943.4):c.4834+9A>G - LTBP1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4844del r.(?) p.(Asn1615IlefsTer23) Both (homozygous) - pathogenic (recessive) g.33622209del g.33397142del - - LTBP1_000013 - PubMed: Pottie 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES cutis laxa Fam1PatIV2 PubMed: Pottie 2021 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - 1 Johan den Dunnen
?/. 34 c.5031G>C r.(5031g>c) p.(Lys1677Asn) Unknown - VUS g.33623477G>C g.33398410G>C - - LTBP1_000001 - - - - De novo - - - - - DNA SEQ-NG blood - OPLL - - - - - China Han - - - - 1 Xiaochen Qu
-?/. - c.5120C>T r.(?) p.(Pro1707Leu) Unknown - likely benign g.33623566C>T - LTBP1(NM_206943.4):c.5120C>T (p.(Pro1707Leu)) - LTBP1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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