Full data view for gene HSPB8

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_014365.2 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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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.266C>G r.(?) p.(Pro89Arg) Unknown - VUS g.119617383C>G g.119179578C>G HSPB8(NM_014365.3):c.266C>G (p.P89R) - HSPB8_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.269C>T r.(?) p.(Pro90Leu) Unknown - likely pathogenic (dominant) g.119617386C>T g.119179581C>T - - HSPB8_000016 - PubMed: Echaniz-Laguna 2017 - - De novo - - - - - DNA SEQ - - HMN F31 PubMed: Echaniz-Laguna 2017 - - - France - - - - - 1 Johan den Dunnen
-/. - c.402T>C r.(?) p.(Ile134=) Unknown - benign g.119624864T>C - HSPB8(NM_014365.3):c.402T>C (p.I134=) - HSPB8_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.413A>C r.(?) p.(Asn138Thr) Parent #1 - likely pathogenic (dominant) g.119624875A>C g.119187070A>C - - HSPB8_000017 - PubMed: Echaniz-Laguna 2017 - - Germline - - - - - DNA SEQ - - HMN F29 PubMed: Echaniz-Laguna 2017 family, 2 affected - - France - - - - - 3 Johan den Dunnen
+?/. - c.413A>C r.(?) p.(Asn138Thr) Parent #1 - likely pathogenic (dominant) g.119624875A>C g.119187070A>C - - HSPB8_000017 - PubMed: Echaniz-Laguna 2017 - - Germline - - - - - DNA SEQ - - HMN F29 PubMed: Echaniz-Laguna 2017 - - - France - - - - - 1 Johan den Dunnen
+?/. - c.413A>C r.(?) p.(Asn138Thr) Parent #1 - likely pathogenic (dominant) g.119624875A>C g.119187070A>C - - HSPB8_000017 - PubMed: Echaniz-Laguna 2017 - - Germline - - - - - DNA SEQ - - HMN F29 PubMed: Echaniz-Laguna 2017 - - - France - - - - - 1 Johan den Dunnen
+/. 2 c.421A>G r.(?) p.(Lys141Glu) Parent #1 - pathogenic g.119624883A>G g.119187078A>G - - HSPB8_000004 - PubMed: Irobi 2004, OMIM:var0002 - rs104894351 Germline yes - - - - DNA SEQ - - HMN2 - PubMed: Irobi 2004 4-generation family, 8 affecteds (3F, 5M) F;M no United Kingdom (Great Britain) - - - - - 8 Johan den Dunnen
+/. 2 c.421A>G r.(?) p.(Lys141Glu) Parent #1 - pathogenic g.119624883A>G g.119187078A>G - - HSPB8_000004 - PubMed: Irobi 2004, OMIM:var0002 - rs104894351 Germline yes - - - - DNA SEQ - - HMN2 - PubMed: Irobi 2004 4-generation family, 4 affecteds (2F, 2M) F;M no Bulgaria - - - - - 4 Johan den Dunnen
+/. - c.421A>G r.(?) p.(Lys141Glu) Unknown - pathogenic g.119624883A>G g.119187078A>G HSPB8(NM_014365.3):c.421A>G (p.K141E) - HSPB8_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.421A>G r.(?) p.(Lys141Glu) Unknown - pathogenic g.119624883A>G g.119187078A>G HSPB8(NM_014365.3):c.421A>G (p.K141E) - HSPB8_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.422A>T r.(?) p.(Lys141Met) Parent #1 - likely pathogenic (dominant) g.119624884A>T g.119187079A>T - - HSPB8_000018 - PubMed: Echaniz-Laguna 2017 - - Germline - - - - - DNA SEQ - - HMN F32 PubMed: Echaniz-Laguna 2017 family, 2 affected - - France - - - - - 2 Johan den Dunnen
+?/. - c.422A>T r.(?) p.(Lys141Met) Parent #1 - likely pathogenic (dominant) g.119624884A>T g.119187079A>T - - HSPB8_000018 - PubMed: Echaniz-Laguna 2017 - - Germline - - - - - DNA SEQ - - HMN F32 PubMed: Echaniz-Laguna 2017 - - - France - - - - - 1 Johan den Dunnen
+/. 2 c.423G>C r.(?) p.(Lys141Asn) Parent #1 - pathogenic g.119624885G>C g.119187080G>C - - HSPB8_000005 - PubMed: Irobi 2004, OMIM:var0001 - rs104894345 Germline yes - - - - DNA SEQ - - HMN2 - PubMed: Irobi 2004 6-generation family, 34 affecteds (16F, 18M) F;M no Czech Republic - - - - - 34 Johan den Dunnen
+/. 2 c.423G>C r.(?) p.(Lys141Asn) Parent #1 - pathogenic g.119624885G>C g.119187080G>C - - HSPB8_000005 - PubMed: Irobi 2004, OMIM:var0001 - rs104894345 Germline yes - - - - DNA SEQ - - HMN2 - PubMed: Irobi 2004 6-generation family, 32 affecteds (13F, 19M) F;M no Belgium - - - - - 32 Johan den Dunnen
+/. - c.423G>C r.(?) p.(Lys141Asn) Unknown - pathogenic g.119624885G>C g.119187080G>C HSPB8(NM_014365.3):c.423G>C (p.K141N) - HSPB8_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.423G>C r.(?) p.(Lys141Asn) Unknown - pathogenic (dominant) g.119624885G>C g.119187080G>C - - HSPB8_000005 - PubMed: Echaniz-Laguna 2017 - - Germline - - - - - DNA SEQ - - HMN F30 PubMed: Echaniz-Laguna 2017 - - - Gabon - - - - - 1 Johan den Dunnen
+/. 2 c.423G>T r.(?) p.(Lys141Asn) Parent #1 - pathogenic g.119624885G>T g.119187080G>T - - HSPB8_000006 - PubMed: Tang 2005, OMIM:var0003 - rs104894345 Germline yes - - - - DNA SEQ - - CMT2L - PubMed: Tang 2004, PubMed: Tang 2005 6-generation family, 26 affecteds (15F, 11M) F;M no China - - - - - 26 Johan den Dunnen
+/. - c.423G>T r.(?) p.(Lys141Asn) Unknown - pathogenic g.119624885G>T g.119187080G>T HSPB8(NM_014365.3):c.423G>T (p.K141N) - HSPB8_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.432-16C>T r.(=) p.(=) Unknown - benign g.119631488C>T g.119193683C>T HSPB8(NM_014365.2):c.432-16C>T, HSPB8(NM_014365.3):c.432-16C>T - HSPB8_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.432-16C>T r.(=) p.(=) Unknown - likely benign g.119631488C>T g.119193683C>T HSPB8(NM_014365.2):c.432-16C>T, HSPB8(NM_014365.3):c.432-16C>T - HSPB8_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.520_533del r.520_533del p.(Tyr174Argfs*37) Paternal (confirmed) - likely pathogenic g.119631592_119631605del g.119193787_119193800del - - HSPB8_000014 - PubMed: Lee 2019 ClinVar-000837712.1 - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood, fibroblast WES ? Pat21 PubMed: Lee 2019 - - - United States - - - - - 1 Johan den Dunnen
-/. - c.535G>C r.(?) p.(Glu179Gln) Unknown - benign g.119631607G>C - HSPB8(NM_014365.3):c.535G>C (p.E179Q) - HSPB8_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.538_542del r.(?) p.(Ser180Phefs*34) Maternal (inferred) ACMG pathogenic (dominant) g.119631610_119631614del g.119193805_119193809del - - HSPB8_000021 - - - - Germline - - - - - DNA SEQ blood sample - MFM - - - - - China - - - - - 1 Jingchu Yuan
-/. - c.552C>T r.(?) p.(Asn184=) Unknown - benign g.119631624C>T g.119193819C>T HSPB8(NM_014365.3):c.552C>T (p.N184=) - HSPB8_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.562del r.(?) p.(Gln188Argfs*59) Unknown - likely pathogenic g.119631634del g.119193829del - - HSPB8_000015 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 1 Johan den Dunnen
+/. 3 c.562del r.(?) p.(Gln188Argfs*59) Unknown ACMG pathogenic (dominant) g.119631634del g.119193829del - - HSPB8_000015 - - - - Germline - - - - - DNA SEQ blood sample - MFM - - - - - China - - - - - 1 Jingchu Yuan
+/. 3 c.571del r.(?) p.(Gln191Argfs*56) Unknown ACMG pathogenic (dominant) g.119631643del g.119193838del - - HSPB8_000022 - - - - Germline - - - - - DNA SEQ blood sample WES (whole exome sequencing MFM - - - M no - - - - - - 1 Jingchu Yuan
-?/. 3 c.582C>T r.(?) p.(Thr194=) Parent #1 - likely benign g.119631654C>T g.119193849C>T - - HSPB8_000007 - PubMed: Zhang 2005 - rs4628742 Germline - 2/115 CMT cases - - - DNA SEQ - - CMT - PubMed: Zhang 2005 - ? ? China - - - - - 2 Johan den Dunnen
-/. - c.582C>T r.(?) p.(Thr194=) Unknown - benign g.119631654C>T g.119193849C>T HSPB8(NM_014365.2):c.582C>T (p.T194=), HSPB8(NM_014365.3):c.582C>T (p.T194=) - HSPB8_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.582C>T r.(?) p.(Thr194=) Unknown - benign g.119631654C>T g.119193849C>T HSPB8(NM_014365.2):c.582C>T (p.T194=), HSPB8(NM_014365.3):c.582C>T (p.T194=) - HSPB8_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*644A>G r.(=) p.(=) Unknown - benign g.119632307A>G g.119194502A>G HSPB8(NM_014365.3):c.*644A>G - HSPB8_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*684G>A r.(=) p.(=) Unknown - benign g.119632347G>A g.119194542G>A HSPB8(NM_014365.3):c.*684G>A - HSPB8_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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