Full data view for gene LAMA2

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Information The variants shown are described using the NM_000426.3 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

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Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Remarks     

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VIP     

Data_av     

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Panel size     

Owner     
?/. 33 c.4750G>A - r.(?) p.(Gly1584Ser) Unknown g.129687396G>A g.129366251G>A - - LAMA2_000123 - - - - Unknown - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. 33 c.4750G>A - r.(?) p.(Gly1584Ser) Unknown g.129687396G>A g.129366251G>A - - LAMA2_000123 - - - - Unknown - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
+/-? 33 c.4750G>A - r.4750g>a p.Gly1584Ser Parent #1 g.129687396G>A g.129366251G>A 4799G>A ex32 - LAMA2_000123 not in 100 normal chromosomes; unknown variant 2nd chromosome PubMed: Tezak 2003 - - Germline - - - 0 - DNA, RNA RT-PCR, DHPLC - - MDC 12552556-Pat4 PubMed: Tezak 2003 - M - United States - >3y 0 - - 1 Johan den Dunnen
+/. 33 c.4750G>A - r.(?) p.(Gly1584Ser) Unknown g.129687396G>A g.129366251G>A - - LAMA2_000123 - - - - Germline - - - 0 - DNA SEQ - - MDC ? - - F - - - - 0 - - 1 Tom Winder
-?/. 33 c.4750G>A - r.(?) p.(Gly1584Ser) Unknown g.129687396G>A g.129366251G>A - - LAMA2_000123 - - - - Germline - - - 0 - DNA SEQ - - MDC ? - - M - United States - - 0 - - 1 Tom Winder
?/. 33 c.4750G>A - r.(?) p.(Gly1584Ser) Unknown g.129687396G>A g.129366251G>A - - LAMA2_000123 - - - - Germline - - - 0 - DNA SEQ - - MDC ? - - F - United States - - 0 - - 1 Tom Winder
-?/. 33 c.4750G>A - r.(?) p.(Gly1584Ser) Unknown g.129687396G>A g.129366251G>A - - LAMA2_000123 - - - - Germline - - - 0 - DNA SEQ - - MDC ? - - F - Mexico Hispanic - 0 - - 1 Tom Winder
?/. 33 c.4750G>A - r.(?) p.(Gly1584Ser) Unknown g.129687396G>A g.129366251G>A - - LAMA2_000123 - - - - Germline - - - 0 - DNA SEQ - - MDC ? - - M - United States - - 0 - - 1 Tom Winder
-?/. 33 c.4750G>A - r.(?) p.(Gly1584Ser) Maternal (confirmed) g.129687396G>A g.129366251G>A - - LAMA2_000123 - - - - Germline - - - 0 - DNA SEQ - - MDC ? - - M - (United States) - - 0 - - 1 Tom Winder
-?/. 33 c.4750G>A - r.(?) p.(Gly1584Ser) Unknown g.129687396G>A g.129366251G>A - - LAMA2_000123 - - - - Germline - - - 0 - DNA PCR, SEQ - - MDC ? - - M - United States - - 0 - - 1 Tom Winder
+/-? 33 c.4750G>A - r.(?) p.(Gly1584Ser) Unknown g.129687396G>A g.129366251G>A - - LAMA2_000123 - from website {DBsub-Emory} - - Germline - - - 0 - DNA SEQ - - ? Emory-? from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
-?/. 33 c.4750G>A - r.(?) p.(Gly1584Ser) Both (homozygous) g.129687396G>A g.129366251G>A - - LAMA2_000123 - PubMed: Beytía 2013 - - Germline - - - 0 - DNA SEQ - - MDC 24225367-Pat4 PubMed: Beytía 2013 - M - - - >00y17m 0 - - 1 Jorge Oliveira
-?/. 33 c.4750G>A likely benign r.(?) p.(Gly1584Ser) Unknown g.129687396G>A - LAMA2(NM_000426.3):c.4750G>A (p.G1584S) - LAMA2_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 33 c.4750G>A benign r.(?) p.(Gly1584Ser) Unknown g.129687396G>A - LAMA2(NM_000426.3):c.4750G>A (p.G1584S) - LAMA2_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 33 c.4750G>A likely benign r.(?) p.(Gly1584Ser) Unknown g.129687396G>A - LAMA2(NM_000426.3):c.4750G>A (p.G1584S) - LAMA2_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/-? 33 c.4750G>A ACMG: 2 r.(?) p.(Gly1584Ser) Unknown g.129687396G>A - - - LAMA2_000123 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.4750G>A - r.(?) p.(Gly1584Ser) Unknown g.129687396G>A g.129366251G>A - - LAMA2_000123 42 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs117781224 Germline - 42/2753 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 42 Mohammed Faruq
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