Full data view for gene LTBP4

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

240 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

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.2158_3422= VTTT;ITTT r.(=) p.(Thr720_Thr1074=) Parent #2 - benign g.41117869_41128309= g.40611963_40622404= - - LTBP4_000005 - PubMed: Luce 2024 - - Germline - - - - - DNA MLPA - - BMD/DMD #912 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-?/. - c.135C>T - - p.? Parent #1 - likely benign g.41107428C>T g.40601522C>T - - LTBP4_000051 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs185400394 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.379= VTTT;VAAM r.(?) p.(Val127=) Both (homozygous) - benign g.41111069= g.40605163= - - LTBP4_000002 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA BLOOD - MD #477 PubMed: Luce 2021 del-dup M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.379G>A - r.(?) p.(Val127Ile) Unknown - benign g.41111069G>A g.40605163G>A LTBP4(NM_001042544.1):c.580G>A (p.V194I) - LTBP4_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.379G>A - r.(?) p.(Val127Ile) Unknown - benign g.41111069G>A g.40605163G>A LTBP4(NM_001042544.1):c.580G>A (p.V194I) - LTBP4_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.379G>A VAAT;IAAM r.(?) p.(Val127Ile) Parent #2 - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA - - BMD/DMD #832 PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.379G>A IAAT;IAAM r.(?) p.(Val127Ile) Both (homozygous) - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA - - BMD/DMD #52LP PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.379G>A VAAM;IAAM r.(?) p.(Val127Ile) Parent #2 - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA - - BMD/DMD #263 PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.379G>A VTTT;IAAM r.(?) p.(Val127Ile) Parent #2 - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA - - BMD/DMD #879 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-/. - c.379G>A IAAT;IAAT r.(?) p.(Val127Ile) Both (homozygous) - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA - - BMD/DMD #137 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-/. - c.379G>A VTTT;IAAM r.(?) p.(Val127Ile) Parent #2 - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA - - BMD/DMD #229LP PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.379G>A VTTT;IAAM r.(?) p.(Val127Ile) Parent #2 - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA - - BMD/DMD #658 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-/. - c.379G>A VTTT;IAAM r.(?) p.(Val127Ile) Parent #2 - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA - - BMD/DMD #864 PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.379G>A VTTT;IAAM r.(?) p.(Val127Ile) Parent #2 - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA - - BMD/DMD #915 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-/. - c.379G>A VTTT;IAAM r.(?) p.(Val127Ile) Parent #2 - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA - - BMD/DMD #467 PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.379G>A VTTT;IAAM r.(?) p.(Val127Ile) Parent #2 - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA - - BMD/DMD #564 PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.379G>A VTTT;IAAM r.(?) p.(Val127Ile) Parent #2 - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA - - BMD/DMD #47LP PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.379G>A VTTM;IAAM r.(?) p.(Val127Ile) Parent #2 - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA - - BMD/DMD #238LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-/. - c.379G>A VTTT;IAAM r.(?) p.(Val127Ile) Parent #2 - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA - - BMD/DMD #68LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-/. - c.379G>A VTTT;IAAM r.(?) p.(Val127Ile) Parent #2 - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA - - BMD/DMD #747 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-/. - c.379G>A VTTT;IAAM r.(?) p.(Val127Ile) Parent #2 - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA - - BMD/DMD #432 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-/. - c.379G>A VTTT;IAAM r.(?) p.(Val127Ile) Parent #2 - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA - - BMD/DMD #34LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-/. - c.379G>A VTTT;IAAM r.(?) p.(Val127Ile) Parent #2 - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA - - BMD/DMD #545 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-/. - c.379G>A VTTT;IAAT r.(?) p.(Val127Ile) Parent #2 - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA, SEQ - - BMD/DMD #72LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-/. - c.379G>A VTTT;IAAM r.(?) p.(Val127Ile) Parent #2 - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA - - BMD/DMD #212LP PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.379G>A IAAM r.(?) p.(Val127Ile) Both (homozygous) - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA - - BMD/DMD #81LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-/. - c.379G>A VTTT;IAAM r.(?) p.(Val127Ile) Parent #2 - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA - - BMD/DMD #182LP PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.379G>A VTTT;ITTT r.(?) p.(Val127Ile) Parent #2 - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA - - BMD/DMD #912 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-/. - c.379G>A ITTT;IAAM r.(?) p.(Val127Ile) Both (homozygous) - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA, SEQ - - BMD/DMD #39LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-/. - c.379G>A IAAM r.(?) p.(Val127Ile) Both (homozygous) - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA - - BMD/DMD #228 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-/. - c.379G>A IAAM r.(?) p.(Val127Ile) Both (homozygous) - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA - - BMD/DMD #283 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-/. - c.379G>A VTTT;IAAM r.(?) p.(Val127Ile) Parent #2 - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA - - BMD/DMD #48LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-/. - c.379G>A VTTT;IAAM r.(?) p.(Val127Ile) Parent #2 - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA - - BMD/DMD #584 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-/. - c.379G>A VTTT;IAAM r.(?) p.(Val127Ile) Parent #2 - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA - - BMD/DMD #13LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-/. - c.379G>A VTTT;IAAM r.(?) p.(Val127Ile) Parent #2 - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA PCRm - - DMD #171 - - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.379G>A IAAT;IAAM r.(?) p.(Val127Ile) Both (homozygous) - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA, PCR BLOOD - MD #676 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.379G>A VTTT;IAAT r.(?) p.(Val127Ile) Parent #2 - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA SEQ-NG-I blood WES DMD #626 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.379G>A IAAM r.(?) p.(Val127Ile) Both (homozygous) - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA BLOOD - MD #507 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.379G>A VAAT;IAAM r.(?) p.(Val127Ile) Parent #2 - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA SEQ-NG-I blood - DMD #378 PubMed: Luce 2021 - M no Argentina - - - - - 1 Florencia Giliberto
-/. - c.379G>A IAAM r.(?) p.(Val127Ile) Both (homozygous) - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA BLOOD - MD #644 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.379G>A IAAM r.(?) p.(Val127Ile) Both (homozygous) - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA, PCRm - - DMD #430 - - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.379G>A VTTT;IAAM r.(?) p.(Val127Ile) Parent #2 - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA SEQ-NG blood - DMD #64LP PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.379G>A VTTT;IAAM r.(?) p.(Val127Ile) Parent #2 - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA SEQ-NG-I Blood WES DMD #435 PubMed: Luce 2018 PubMed: Luce 2021 - M ? Argentina - - - - - 1 Florencia Giliberto
-/. - c.379G>A VTTT;IAAT r.(?) p.(Val127Ile) Parent #2 - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA - - BMD/DMD #153 PubMed: Luce 2016, Journal: Luce 2016 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.379G>A VTTT;IAAM r.(?) p.(Val127Ile) Parent #2 - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA MLPA - - BMD/DMD #67 PubMed: Luce 2016, Journal: Luce 2016 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.379G>A VTTT;IAAM r.(?) p.(Val127Ile) Parent #2 - benign g.41111069G>A g.40605163G>A - - LTBP4_000001 - PubMed: Luce 2024 - rs2303729 Germline - - - - - DNA SEQ-NG-I BLOOD - MD #853 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.379_3422= VTTT r.(?) p.(Val127_Thr1074=) Both (homozygous) - benign g.41111069_41128309= g.40605163_40622404= - - LTBP4_000003 - PubMed: Luce 2024 - - Germline - - - - - DNA MLPA - - BMD/DMD #874 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-/. - c.379_3422= VTTT r.(?) p.(Val127_Thr1074=) Both (homozygous) - benign g.41111069_41128309= g.40605163_40622404= - - LTBP4_000003 - PubMed: Luce 2024 - - Germline - - - - - DNA MLPA - - BMD/DMD #69LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-/. - c.379_3422= VTTT r.(?) p.(Val127_Thr1074=) Both (homozygous) - benign g.41111069_41128309= g.40605163_40622404= - - LTBP4_000003 - PubMed: Luce 2024 - - Germline - - - - - DNA MLPA - - BMD/DMD #94 PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.379_3422= VTTT r.(?) p.(Val127_Thr1074=) Both (homozygous) - benign g.41111069_41128309= g.40605163_40622404= - - LTBP4_000003 - PubMed: Luce 2024 - - Germline - - - - - DNA MLPA - - BMD/DMD #554 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-/. - c.379_3422= VTTT r.(?) p.(Val127_Thr1074=) Both (homozygous) - benign g.41111069_41128309= g.40605163_40622404= - - LTBP4_000003 - PubMed: Luce 2024 - - Germline - - - - - DNA MLPA - - BMD/DMD #184LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-/. - c.379_3422= VTTT r.(?) p.(Val127_Thr1074=) Both (homozygous) - benign g.41111069_41128309= g.40605163_40622404= - - LTBP4_000003 - PubMed: Luce 2024 - - Germline - - - - - DNA MLPA - - BMD/DMD #15LP PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.379_3422= VTTT r.(?) p.(Val127_Thr1074=) Both (homozygous) - benign g.41111069_41128309= g.40605163_40622404= - - LTBP4_000003 - PubMed: Luce 2024 - - Germline - - - - - DNA MLPA - - BMD/DMD #431 PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.379_3422= VTTT r.(?) p.(Val127_Thr1074=) Both (homozygous) - benign g.41111069_41128309= g.40605163_40622404= - - LTBP4_000003 - PubMed: Luce 2024 - - Germline - - - - - DNA MLPA - - BMD/DMD #195LP PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.379_3422= VTTT r.(?) p.(Val127_Thr1074=) Both (homozygous) - benign g.41111069_41128309= g.40605163_40622404= - - LTBP4_000003 - PubMed: Luce 2024 - - Germline - - - - - DNA MLPA - - BMD/DMD #169LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-/. - c.379_3422= VTTT r.(?) p.(Val127_Thr1074=) Both (homozygous) - benign g.41111069_41128309= g.40605163_40622404= - - LTBP4_000003 - PubMed: Luce 2024 - - Germline - - - - - DNA MLPA - - BMD/DMD #677 PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.379_3422= VTTT r.(?) p.(Val127_Thr1074=) Both (homozygous) - benign g.41111069_41128309= g.40605163_40622404= - - LTBP4_000003 - PubMed: Luce 2024 - - Germline - - - - - DNA MLPA - - BMD/DMD #66LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-/. - c.379_3422= VTTT r.(?) p.(Val127_Thr1074=) Both (homozygous) - benign g.41111069_41128309= g.40605163_40622404= - - LTBP4_000003 - PubMed: Luce 2024 - - Germline - - - - - DNA MLPA, SEQ - - BMD/DMD #516 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-/. - c.379_3422= VTTT r.(?) p.(Val127_Thr1074=) Both (homozygous) - benign g.41111069_41128309= g.40605163_40622404= - - LTBP4_000003 - PubMed: Luce 2024 - - Germline - - - - - DNA MLPA - - BMD/DMD #823 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-/. - c.379_3422= VTTT r.(?) p.(Val127_Thr1074=) Both (homozygous) - benign g.41111069_41128309= g.40605163_40622404= - - LTBP4_000003 - PubMed: Luce 2024 - - Germline - - - - - DNA MLPA, SEQ - - BMD/DMD #888 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-/. - c.379_3422= VTTT r.(?) p.(Val127_Thr1074=) Both (homozygous) - benign g.41111069_41128309= g.40605163_40622404= - - LTBP4_000003 - PubMed: Luce 2024 - - Germline - - - - - DNA MLPA, SEQ - - BMD/DMD #132 PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.379_3422= VTTT r.(?) p.(Val127_Thr1074=) Both (homozygous) - benign g.41111069_41128309= g.40605163_40622404= - - LTBP4_000003 - PubMed: Luce 2024 - - Germline - - - - - DNA MLPA - - BMD/DMD #420 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-/. - c.379_3422= VTTT r.(?) p.(Val127_Thr1074=) Both (homozygous) - benign g.41111069_41128309= g.40605163_40622404= - - LTBP4_000003 - PubMed: Luce 2024 - - Germline - - - - - DNA MLPA - - BMD/DMD #184 PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.379_3422= VTTT r.(?) p.(Val127_Thr1074=) Both (homozygous) - benign g.41111069_41128309= g.40605163_40622404= - - LTBP4_000003 - PubMed: Luce 2024 - - Germline - - - - - DNA MLPA - - BMD/DMD #523 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-/. - c.379_3422= VTTT r.(?) p.(Val127_Thr1074=) Both (homozygous) - benign g.41111069_41128309= g.40605163_40622404= - - LTBP4_000003 - PubMed: Luce 2024 - - Germline - - - - - DNA MLPA - - BMD/DMD #186 PubMed: Luce 2016, Journal: Luce 2016 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.379_3422= VTTT r.(?) p.(Val127_Thr1074=) Both (homozygous) - benign g.41111069_41128309= g.40605163_40622404= - - LTBP4_000003 - PubMed: Luce 2024 - - Germline - - - - - DNA MLPA BLOOD - MD #294 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.379_3422= VTTT r.(?) p.(Val127_Thr1074=) Both (homozygous) - benign g.41111069_41128309= g.40605163_40622404= - - LTBP4_000003 - PubMed: Luce 2024 - - Germline - - - - - DNA MLPA BLOOD - MD #800 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.379_3422= VTTT r.(?) p.(Val127_Thr1074=) Both (homozygous) - benign g.41111069_41128309= g.40605163_40622404= - - LTBP4_000003 - PubMed: Luce 2024 - - Germline - - - - - DNA MLPA BLOOD - MD #273 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.379_3422= VTTT r.(?) p.(Val127_Thr1074=) Both (homozygous) - benign g.41111069_41128309= g.40605163_40622404= - - LTBP4_000003 - PubMed: Luce 2024 - - Germline - - - - - DNA SEQ-NG blood - DMD #125 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.379_3422= VTTT r.(?) p.(Val127_Thr1074=) Both (homozygous) - benign g.41111069_41128309= g.40605163_40622404= - - LTBP4_000003 - PubMed: Luce 2024 - - Germline - - - - - DNA MLPA - - BMD/DMD #616 PubMed: Luce 2016, Journal: Luce 2016 - M - Argentina - - - - - 1 Florencia Giliberto
-?/. - c.492G>C - r.(?) p.(Ser164=) Unknown - likely benign g.41111360G>C g.40605454G>C LTBP4(NM_001042544.1):c.693G>C (p.S231=) - LTBP4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.891C>T - r.(?) p.(Gly297=) Unknown - likely benign g.41112332C>T g.40606426C>T LTBP4(NM_001042544.1):c.1092C>T (p.G364=) - LTBP4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1186C>G - r.(?) p.(Pro396Ala) Unknown - VUS g.41114155C>G g.40608249C>G LTBP4(NM_001042544.1):c.1387C>G (p.P463A) - LTBP4_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1217G>A - r.(?) p.(Arg406His) Unknown - likely benign g.41114186G>A g.40608280G>A LTBP4(NM_001042544.1):c.1418G>A (p.(Arg473His)) - LTBP4_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1238G>A - r.(?) p.(Gly413Asp) Unknown - benign g.41114207G>A g.40608301G>A LTBP4(NM_001042544.1):c.1439G>A (p.G480D) - LTBP4_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1300T>A - r.(?) p.(Ser434Thr) Unknown - benign g.41114269T>A g.40608363T>A LTBP4(NM_001042544.1):c.1501T>A (p.S501T) - LTBP4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1324C>T - r.(?) p.(Arg442Cys) Unknown - VUS g.41114407C>T - LTBP4(NM_001042544.1):c.1525C>T (p.R509C) - LTBP4_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1427-8C>A - r.(=) p.(=) Unknown - likely benign g.41115428C>A g.40609522C>A LTBP4(NM_001042544.1):c.1628-8C>A (p.(=)) - LTBP4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1702C>G - r.(?) p.(Arg568Gly) Unknown - benign g.41116455C>G g.40610549C>G LTBP4(NM_001042544.1):c.1903C>G (p.R635G) - LTBP4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1748G>A - r.(?) p.(Gly583Asp) Unknown - VUS g.41116501G>A - LTBP4(NM_001042544.1):c.1949G>A (p.G650D) - LTBP4_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1968C>T - r.(?) p.(Pro656=) Unknown - benign g.41117215C>T g.40611309C>T LTBP4(NM_001042544.1):c.2169C>T (p.P723=) - LTBP4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2053G>A - - p.? Parent #1 - likely benign g.41117300G>A g.40611394G>A - - LTBP4_000042 11 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34093919 Germline - 11/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 11 Mohammed Faruq
-/. - c.2053G>A - r.(?) p.(Asp685Asn) Unknown - benign g.41117300G>A - LTBP4(NM_003573.2):c.2143G>A (p.D715N) - LTBP4_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2054-11C>A - r.(=) p.(=) Unknown - benign g.41117754C>A g.40611848C>A LTBP4(NM_001042544.1):c.2255-11C>A - LTBP4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2158A>G - r.(?) p.(Thr720Ala) Unknown - benign g.41117869A>G g.40611963A>G LTBP4(NM_001042544.1):c.2359A>G (p.T787A) - LTBP4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2158A>G - r.(?) p.(Thr720Ala) Unknown - benign g.41117869A>G g.40611963A>G LTBP4(NM_001042544.1):c.2359A>G (p.T787A) - LTBP4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2158A>G VAAT;IAAM r.(?) p.(Thr720Ala) Both (homozygous) - benign g.41117869A>G g.40611963A>G - - LTBP4_000004 - PubMed: Luce 2024 - rs1131620 Germline - - - - - DNA MLPA - - BMD/DMD #832 PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.2158A>G IAAT;IAAM r.(?) p.(Thr720Ala) Both (homozygous) - benign g.41117869A>G g.40611963A>G - - LTBP4_000004 - PubMed: Luce 2024 - rs1131620 Germline - - - - - DNA MLPA - - BMD/DMD #52LP PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.2158A>G VAAM;IAAM r.(?) p.(Thr720Ala) Both (homozygous) - benign g.41117869A>G g.40611963A>G - - LTBP4_000004 - PubMed: Luce 2024 - rs1131620 Germline - - - - - DNA MLPA - - BMD/DMD #263 PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.2158A>G VTTT;IAAM r.(?) p.(Thr720Ala) Parent #2 - benign g.41117869A>G g.40611963A>G - - LTBP4_000004 - PubMed: Luce 2024 - rs1131620 Germline - - - - - DNA MLPA - - BMD/DMD #879 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-/. - c.2158A>G IAAT;IAAT r.(?) p.(Thr720Ala) Both (homozygous) - benign g.41117869A>G g.40611963A>G - - LTBP4_000004 - PubMed: Luce 2024 - rs1131620 Germline - - - - - DNA MLPA - - BMD/DMD #137 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-/. - c.2158A>G VTTT;IAAM r.(?) p.(Thr720Ala) Parent #2 - benign g.41117869A>G g.40611963A>G - - LTBP4_000004 - PubMed: Luce 2024 - rs1131620 Germline - - - - - DNA MLPA - - BMD/DMD #229LP PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.2158A>G VTTT;IAAM r.(?) p.(Thr720Ala) Parent #2 - benign g.41117869A>G g.40611963A>G - - LTBP4_000004 - PubMed: Luce 2024 - rs1131620 Germline - - - - - DNA MLPA - - BMD/DMD #658 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-/. - c.2158A>G VTTT;IAAM r.(?) p.(Thr720Ala) Parent #2 - benign g.41117869A>G g.40611963A>G - - LTBP4_000004 - PubMed: Luce 2024 - rs1131620 Germline - - - - - DNA MLPA - - BMD/DMD #864 PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.2158A>G VTTT;IAAM r.(?) p.(Thr720Ala) Parent #2 - benign g.41117869A>G g.40611963A>G - - LTBP4_000004 - PubMed: Luce 2024 - rs1131620 Germline - - - - - DNA MLPA - - BMD/DMD #915 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-/. - c.2158A>G VTTT;IAAM r.(?) p.(Thr720Ala) Parent #2 - benign g.41117869A>G g.40611963A>G - - LTBP4_000004 - PubMed: Luce 2024 - rs1131620 Germline - - - - - DNA MLPA - - BMD/DMD #467 PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.2158A>G VTTT;IAAM r.(?) p.(Thr720Ala) Parent #2 - benign g.41117869A>G g.40611963A>G - - LTBP4_000004 - PubMed: Luce 2024 - rs1131620 Germline - - - - - DNA MLPA - - BMD/DMD #564 PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.2158A>G VTTT;IAAM r.(?) p.(Thr720Ala) Parent #2 - benign g.41117869A>G g.40611963A>G - - LTBP4_000004 - PubMed: Luce 2024 - rs1131620 Germline - - - - - DNA MLPA - - BMD/DMD #47LP PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
-/. - c.2158A>G VTTM;IAAM r.(?) p.(Thr720Ala) Parent #2 - benign g.41117869A>G g.40611963A>G - - LTBP4_000004 - PubMed: Luce 2024 - rs1131620 Germline - - - - - DNA MLPA - - BMD/DMD #238LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
-/. - c.2158A>G VTTT;IAAM r.(?) p.(Thr720Ala) Parent #2 - benign g.41117869A>G g.40611963A>G - - LTBP4_000004 - PubMed: Luce 2024 - rs1131620 Germline - - - - - DNA MLPA - - BMD/DMD #68LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
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