Full data view for gene LAMA3

Information The variants shown are described using the NM_198129.1 transcript reference sequence.

69 entries on 1 page. Showing entries 1 - 69.
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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.57G>C r.(?) p.(Thr19=) Unknown - likely benign g.21269704G>C g.23689740G>C LAMA3(NM_198129.4):c.57G>C (p.T19=) - LAMA3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.295-4del r.spl? p.? Unknown - benign g.21293880del g.23713916del LAMA3(NM_198129.4):c.295-4delT - LAMA3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.813C>G r.(?) p.(His271Gln) Unknown - VUS g.21331010C>G g.23751046C>G LAMA3(NM_198129.4):c.813C>G (p.H271Q) - LAMA3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.856-9G>C r.(=) p.(=) Unknown - likely benign g.21333676G>C - LAMA3(NM_198129.2):c.856-9G>C - LAMA3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.891G>A r.(?) p.(Gly297=) Unknown - likely benign g.21333720G>A g.23753756G>A LAMA3(NM_198129.4):c.891G>A (p.G297=) - LAMA3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1273+26_1273+41del r.(=) p.(=) Unknown - VUS g.21353577_21353592del g.23773613_23773628del LAMA3(NM_001302996.2):c.1299_1314delTCTTAGCCTGTGTGTA (p.L434Cfs*31) - LAMA3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1636A>G r.(?) p.(Met546Val) Unknown - VUS g.21390362A>G - LAMA3(NM_198129.2):c.1636A>G (p.M546V) - LAMA3_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1788+19G>C r.(=) p.(=) Unknown - likely benign g.21393086G>C g.23813122G>C LAMA3(NM_198129.4):c.1788+19G>C - LAMA3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1789-7_1789-5del r.(?) p.? Both (homozygous) - likely pathogenic g.21394360_21394362del g.23814396_23814398del c.1789-7_1789-5delTTC - LAMA3_000058 - PubMed: Nair 2018 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Nair 2018 patient - - Lebanon - - - - - 1 Johan den Dunnen
-?/. - c.1806G>A r.(?) p.(Lys602=) Unknown - likely benign g.21394384G>A g.23814420G>A LAMA3(NM_198129.4):c.1806G>A (p.K602=) - LAMA3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1813G>A r.(?) p.(Val605Ile) Unknown - VUS g.21394391G>A g.23814427G>A LAMA3(NM_198129.2):c.1813G>A (p.V605I) - LAMA3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1889-9T>C r.(=) p.(=) Unknown - likely benign g.21395143T>C g.23815179T>C LAMA3(NM_198129.2):c.1889-9T>C - LAMA3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2466T>A r.(?) p.(Ser822Arg) Unknown - VUS g.21404424T>A g.23824460T>A LAMA3(NM_198129.2):c.2466T>A (p.S822R) - LAMA3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2571+8T>G r.(=) p.(=) Unknown - likely benign g.21404537T>G - LAMA3(NM_198129.2):c.2571+8T>G - LAMA3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2585T>C r.(?) p.(Leu862Pro) Unknown - VUS g.21406679T>C g.23826715T>C LAMA3(NM_198129.2):c.2585T>C (p.L862P) - LAMA3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2874T>G r.(?) p.(Val958=) Unknown - likely benign g.21413842T>G - LAMA3(NM_198129.2):c.2874T>G (p.V958=) - LAMA3_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2901T>C r.(?) p.(Ala967=) Unknown - benign g.21413869T>C g.23833905T>C LAMA3(NM_198129.4):c.2901T>C (p.A967=) - LAMA3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3615A>G r.(?) p.(Leu1205=) Unknown - likely benign g.21424984A>G g.23845020A>G LAMA3(NM_198129.4):c.3615A>G (p.L1205=) - LAMA3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3622C>A r.(?) p.(Pro1208Thr) Unknown - VUS g.21424991C>A g.23845027C>A - - LAMA3_000018 - - - rs17202961 Germline yes - - - - DNA SEQ-NG-I Blood - cancer, rectal Fam1213 - - - - - - - - - - 1 Xiang Jiao
-?/. - c.4029C>T r.(?) p.(His1343=) Unknown - likely benign g.21427525C>T - LAMA3(NM_198129.2):c.4029C>T (p.H1343=) - LAMA3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4060G>A r.(?) p.(Glu1354Lys) Unknown - likely benign g.21427556G>A g.23847592G>A LAMA3(NM_198129.4):c.4060G>A (p.E1354K) - LAMA3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4110G>A r.(?) p.(Glu1370=) Unknown - likely benign g.21427606G>A g.23847642G>A LAMA3(NM_198129.4):c.4110G>A (p.E1370=) - LAMA3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4163A>T r.(?) p.(Gln1388Leu) Unknown - VUS g.21437834A>T - LAMA3(NM_198129.4):c.4163A>T (p.Q1388L) - LAMA3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4226G>T r.(?) p.(Arg1409Ile) Unknown - VUS g.21437897G>T g.23857933G>T LAMA3(NM_198129.2):c.4226G>T (p.R1409I) - LAMA3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4260G>C r.(?) p.(Gly1420=) Unknown - benign g.21437931G>C g.23857967G>C LAMA3(NM_198129.4):c.4260G>C (p.G1420=) - LAMA3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4432A>T r.(?) p.(Met1478Leu) Unknown - VUS g.21441619A>T - LAMA3(NM_198129.4):c.4432A>T (p.M1478L) - LAMA3_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4530C>T r.(?) p.(Pro1510=) Unknown - benign g.21441717C>T g.23861753C>T LAMA3(NM_198129.4):c.4530C>T (p.P1510=) - LAMA3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4584+14G>A r.(=) p.(=) Unknown - likely benign g.21441785G>A g.23861821G>A LAMA3(NM_198129.4):c.4584+14G>A - LAMA3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4643A>G r.(?) p.(Asp1548Gly) Unknown - likely benign g.21444807A>G - LAMA3(NM_198129.4):c.4643A>G (p.D1548G) - LAMA3_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4758C>T r.(?) p.(His1586=) Unknown - likely benign g.21447872C>T g.23867908C>T LAMA3(NM_198129.2):c.4758C>T (p.H1586=) - LAMA3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4998+1421G>T r.(=) p.(=) Unknown - VUS g.21453046G>T g.23873082G>T LAMA3(NM_000227.6):c.38G>T (p.G13V) - LAMA3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5068A>G r.(?) p.(Asn1690Asp) Unknown - VUS g.21456327A>G g.23876363A>G LAMA3(NM_198129.2):c.5068A>G (p.N1690D) - LAMA3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5512G>A r.(?) p.(Glu1838Lys) Unknown - VUS g.21474921G>A g.23894957G>A LAMA3(NM_198129.4):c.5512G>A (p.E1838K) - LAMA3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5522G>T r.(?) p.(Arg1841Leu) Unknown - likely benign g.21474931G>T g.23894967G>T LAMA3(NM_198129.2):c.5522G>T (p.R1841L) - LAMA3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5904dup r.(?) p.(Glu1969ArgfsTer4) Unknown - pathogenic g.21479319dup g.23899355dup LAMA3(NM_198129.4):c.5905delGinsAG (p.E1969Rfs*4) - LAMA3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.6115C>T r.(?) p.(Arg2039Cys) Unknown - likely pathogenic g.21481201C>T g.23901237C>T - - LAMA3_000057 - PubMed: Nair 2018 - rs138451075 Germline/De novo (untested) - - - - - DNA SEQ-NG-IT - WES ? - PubMed: Nair 2018 - - - Lebanon - - - - - 1 Johan den Dunnen
?/. - c.6122G>A r.(?) p.(Arg2041Gln) Unknown - VUS g.21481208G>A - LAMA3(NM_198129.2):c.6122G>A (p.R2041Q) - LAMA3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.6477_6486del r.(?) p.(Ile2159MetfsTer46) Unknown - pathogenic g.21484520_21484529del g.23904556_23904565del - - LAMA3_000056 more severe phenotype compared to mother (without LAMA3 variant), possible di-genic inheritance PubMed: Prasad 2016 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - disease gene panel AI V2.82 PubMed: Prasad 2016 2-generation family, affected mother/daugther F - - - - - - - 2 Johan den Dunnen
-?/. - c.6525C>T r.(?) p.(Ala2175=) Unknown - likely benign g.21484568C>T - LAMA3(NM_198129.2):c.6525C>T (p.A2175=) - LAMA3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.6745C>T r.(?) p.(Gln2249Ter) Unknown - pathogenic g.21487540C>T g.23907576C>T LAMA3(NM_198129.4):c.6745C>T (p.Q2249*) - LAMA3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.6960T>A r.(?) p.(Tyr2320*) Unknown - pathogenic g.21487844T>A - - - LAMA3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6985A>G r.(?) p.(Lys2329Glu) Unknown - likely benign g.21487869A>G - LAMA3(NM_198129.2):c.6985A>G (p.K2329E) - LAMA3_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7218C>T r.(?) p.(Asp2406=) Unknown - likely benign g.21492734C>T g.23912770C>T LAMA3(NM_198129.4):c.7218C>T (p.D2406=) - LAMA3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7545C>T r.(?) p.(Pro2515=) Unknown - likely benign g.21494725C>T g.23914761C>T LAMA3(NM_198129.2):c.7545C>T (p.P2515=) - LAMA3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.7737_7738del r.(?) p.(Lys2579AsnfsTer8) Unknown - pathogenic g.21495345_21495346del g.23915381_23915382del LAMA3(NM_198129.4):c.7737_7738delAA (p.K2579Nfs*8) - LAMA3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7742T>C r.(?) p.(Phe2581Ser) Unknown - VUS g.21495350T>C g.23915386T>C LAMA3(NM_198129.2):c.7742T>C (p.F2581S) - LAMA3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.7797C>T r.(?) p.(Asp2599=) Unknown - benign g.21496533C>T g.23916569C>T LAMA3(NM_198129.4):c.7797C>T (p.D2599=) - LAMA3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.8043G>A r.(?) p.(Ser2681=) Unknown - likely pathogenic g.21501018G>A g.23921054G>A LAMA3(NM_198129.4):c.8043G>A (p.S2681=) - LAMA3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8445C>A r.(?) p.(Asn2815Lys) Unknown - VUS g.21511034C>A g.23931070C>A - - LAMA3_000017 - - - rs1154232 Germline yes - - - - DNA SEQ-NG-I Blood - cancer, rectal Fam8 - - - - - - - - - - 2 Xiang Jiao
-?/. - c.8497G>A r.(?) p.(Gly2833Ser) Unknown - likely benign g.21511086G>A g.23931122G>A LAMA3(NM_198129.2):c.8497G>A (p.G2833S) - LAMA3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.8500A>G r.(?) p.(Ser2834Gly) Unknown - benign g.21511089A>G g.23931125= LAMA3(NM_198129.4):c.8500A>G (p.S2834G) - LAMA3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8566G>A r.(?) p.(Asp2856Asn) Unknown - VUS g.21511155G>A - LAMA3(NM_000227.6):c.3739G>A (p.D1247N) - LAMA3_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.8576+7G>C r.(=) p.(=) Unknown - benign g.21511172G>C g.23931208G>C LAMA3(NM_198129.4):c.8576+7G>C - LAMA3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.8576+7G>T r.(=) p.(=) Unknown - likely benign g.21511172G>T g.23931208G>T LAMA3(NM_000227.3):c.3749+7G>T (p.(=)), LAMA3(NM_198129.2):c.8576+7G>T - LAMA3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.8576+7G>T r.(=) p.(=) Unknown - likely benign g.21511172G>T - LAMA3(NM_000227.3):c.3749+7G>T (p.(=)), LAMA3(NM_198129.2):c.8576+7G>T - LAMA3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.8708+4G>A r.spl? p.? Unknown - likely benign g.21512259G>A g.23932295G>A LAMA3(NM_198129.4):c.8708+4G>A - LAMA3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.8851C>T r.(?) p.(Arg2951Cys) Unknown - VUS g.21513888C>T g.23933924C>T - - LAMA3_000001 - - - - Germline - - - - - DNA SEQ-NG - - ABL - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.8851C>T r.(?) p.(Arg2951Cys) Unknown - likely benign g.21513888C>T g.23933924C>T LAMA3(NM_198129.4):c.8851C>T (p.R2951C) - LAMA3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.8898C>T r.(=) p.(=) Parent #1 - likely benign g.21519222C>T g.23939258C>T - - LAMA3_000047 11 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs141164795 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.9067G>A r.(?) p.(Gly3023Arg) Unknown - VUS g.21523792G>A g.23943828G>A LAMA3(NM_198129.2):c.9067G>A (p.G3023R) - LAMA3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.9269G>T r.(?) p.(Arg3090Leu) Unknown - VUS g.21526166G>T g.23946202G>T LAMA3(NM_198129.4):c.9269G>T (p.R3090L) - LAMA3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.9352-7G>A r.(=) p.(=) Unknown - benign g.21529722G>A g.23949758G>A LAMA3(NM_198129.4):c.9352-7G>A - LAMA3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.9353G>A r.(?) p.(Ser3118Asn) Parent #1 - likely benign g.21529730G>A g.23949766G>A - - LAMA3_000040 30 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61749943 Germline - 30/2784 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 30 Mohammed Faruq
-?/. - c.9353G>A r.(?) p.(Ser3118Asn) Both (homozygous) - likely benign g.21529730G>A g.23949766G>A - - LAMA3_000040 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61749943 Germline - 1/2784 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.9500A>C r.(?) p.(His3167Pro) Unknown - VUS g.21529877A>C g.23949913A>C LAMA3(NM_198129.4):c.9500A>C (p.H3167P) - LAMA3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.9511+1G>A r.spl? p.? Unknown - pathogenic g.21529889G>A g.23949925G>A LAMA3(NM_198129.4):c.9511+1G>A - LAMA3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.9512-4A>T r.spl? p.? Unknown - likely benign g.21529989A>T g.23950025A>T LAMA3(NM_198129.4):c.9512-4A>T - LAMA3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.9559C>T r.(?) p.(Arg3187Cys) Parent #1 - likely benign g.21530040C>T g.23950076C>T - - LAMA3_000048 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs150956802 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-/. - c.9643-14C>T r.(=) p.(=) Unknown - benign g.21531634C>T g.23951670C>T LAMA3(NM_198129.4):c.9643-14C>T - LAMA3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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