Full data view for gene SOLH

NOTE: gene name changed from SOLH to CAPN15
Information The variants shown are described using the NM_005632.2 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.201C>T r.(?) p.(=) Unknown - VUS g.597039C>T - CAPN15(NM_005632.3):c.201C>T (p.(Cys67=)) - SOLH_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.274G>A r.(?) p.(Ala92Thr) Unknown - likely benign g.597112G>A - CAPN15(NM_005632.2):c.274G>A (p.(Ala92Thr)) - SOLH_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.376_381del r.(?) p.(Lys126_Asp127del) Unknown - VUS g.597214_597219del g.547214_547219del - - SOLH_000014 no genotypes reported PubMed: Sergouniotis 2016 - rs771271054 Germline - 1/181 individuals - - - DNA SEQ-NG - gene panel CTRCT - PubMed: Sergouniotis 2016 analysis 181 cases - - United Kingdom (Great Britain) - - - - - 1 LOVD
?/. - c.376_381del r.(?) p.(Lys126_Asp127del) Unknown - VUS g.597214_597219del - CAPN15(NM_005632.2):c.376_381delAAGGAC (p.(Lys126_Asp127del)) - SOLH_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.689C>T r.(?) p.(Pro230Leu) Unknown - likely benign g.597527C>T g.547527C>T CAPN15(NM_005632.3):c.689C>T (p.P230L) - SOLH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1082_1083insAGCCGAGCGCCCG r.(?) p.(Cys363Glufs*133) Unknown - VUS g.597920_597921insAGCCGAGCGCCCG - CAPN15(NM_005632.2):c.1082_1083insAGCCGAGCGCCCG (p.(Cys363fs)) - SOLH_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1086_1087insAGTGGGCCTGCCCTGCCTGTACCCTGCTCAACGCAC r.(?) p.(Ala362_Cys363insSerGlyProAlaLeuProValProCysSerThrHis) Unknown - VUS g.597924_597925insAGTGGGCCTGCCCTGCCTGTACCCTGCTCAACGCAC - CAPN15(NM_005632.2):c.1086_1087insAGTGGGCCTGCCCTGCCTGTACCCTGCTCAACGCAC (p.(Ala362_Cys363insSerGlyProAlaLeuProValProCysSerThrHis)) - SOLH_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1669G>A r.(?) p.(Ala557Thr) Unknown - VUS g.599298G>A - CAPN15(NM_005632.3):c.1669G>A (p.(Ala557Thr)) - SOLH_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1838C>T r.(?) p.(Ser613Leu) Both (homozygous) - pathogenic (recessive) g.599467C>T g.549467C>T - - SOLH_000008 - Zha ESHG2020 C06.4 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat4/5 Zha ESHG2020 C06.4 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M yes Canada - - - - - 2 Johan den Dunnen
?/. - c.1876G>A r.(?) p.(Glu626Lys) Unknown - VUS g.599648G>A - CAPN15(NM_005632.3):c.1876G>A (p.E626K) - SOLH_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2008G>A r.(?) p.(Glu670Lys) Unknown - VUS g.599780G>A - CAPN15(NM_005632.3):c.2008G>A (p.(Glu670Lys)) - SOLH_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2159C>T r.(?) p.(Ser720Phe) Parent #1 - pathogenic (recessive) g.601394C>T g.551394C>T - - SOLH_000011 - Zha ESHG2020 C06.4 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat2 Zha ESHG2020 C06.4 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.2174G>A r.(?) p.(Arg725Gln) Unknown - VUS g.601409G>A g.551409G>A CAPN15(NM_005632.3):c.2174G>A (p.R725Q) - SOLH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2398C>T r.(?) p.(Arg800Trp) Parent #2 - pathogenic (recessive) g.602103C>T g.552103C>T - - SOLH_000012 - Zha ESHG2020 C06.4 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat2 Zha ESHG2020 C06.4 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-?/. - c.2450C>T r.(?) p.(Ala817Val) Unknown - likely benign g.602155C>T - CAPN15(NM_005632.2):c.2450C>T (p.(Ala817Val)) - SOLH_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2467C>T r.(?) p.(Arg823Trp) Unknown - VUS g.602172C>T g.552172C>T CAPN15(NM_005632.3):c.2467C>T (p.R823W) - SOLH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2581G>A r.(?) p.(Gly861Ser) Unknown - likely benign g.602374G>A g.552374G>A CAPN15(NM_005632.3):c.2581G>A (p.G861S) - SOLH_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2708C>T r.(?) p.(Pro903Leu) Unknown - likely benign g.602501C>T - CAPN15(NM_005632.3):c.2708C>T (p.(Pro903Leu)) - SOLH_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2709G>A r.(?) p.(Pro903=) Unknown - likely benign g.602502G>A - CAPN15(NM_005632.3):c.2709G>A (p.P903=) - SOLH_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2786G>A r.(?) p.(Gly929Asp) Unknown - VUS g.602653G>A g.552653G>A CAPN15(NM_005632.3):c.2786G>A (p.G929D) - SOLH_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2846C>T r.(?) p.(Pro949Leu) Unknown - VUS g.602713C>T - CAPN15(NM_005632.2):c.2846C>T (p.(Pro949Leu)) - SOLH_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2905G>A r.(?) p.(Gly969Ser) Both (homozygous) - pathogenic (recessive) g.602863G>A g.552863G>A - - SOLH_000010 - Zha ESHG2020 C06.4 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat1 Zha ESHG2020 C06.4 4-generation family, 1 affected, unaffected heterozygous carrier parents F yes United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.3016G>A r.(?) p.(Asp1006Asn) Unknown - VUS g.602974G>A - CAPN15(NM_005632.2):c.3016G>A (p.(Asp1006Asn)) - SOLH_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3083G>A r.(?) p.(Arg1028Lys) Both (homozygous) - pathogenic (recessive) g.603041G>A g.553041G>A - - SOLH_000009 - Zha ESHG2020 C06.4 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat3 Zha ESHG2020 C06.4 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - 1 Johan den Dunnen
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