Full data view for gene DSP

Information The variants shown are described using the NM_004415.2 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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     
?/. 1 c.1dup r.(?) p.(Met1?) - Unknown - VUS g.7542149dup g.7541916dup NM_001008844:.1_2insA (M1fs) - DSP_000001 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. 1 c.1dup r.(?) p.(Met1?) - Unknown - VUS g.7542149dup g.7541916dup NM_001008844:.1_2insA (M1fs) - DSP_000001 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. 1 c.1dup r.(?) p.(Met1?) - Unknown - VUS g.7542149dup g.7541916dup NM_001008844:.1_2insA (M1fs) - DSP_000001 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. 1 c.1dup r.(?) p.(Met1?) - Unknown - VUS g.7542149dup g.7541916dup NM_001008844:.1_2insA (M1fs) - DSP_000001 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. 1 c.1dup r.(?) p.(Met1?) - Unknown - VUS g.7542149dup g.7541916dup NM_001008844:.1_2insA (M1fs) - DSP_000001 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. 1 c.1dup r.(?) p.(Met1?) - Unknown - VUS g.7542149dup g.7541916dup NM_001008844:.1_2insA (M1fs) - DSP_000001 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. 1 c.1dup r.(?) p.(Met1?) - Unknown - VUS g.7542149dup g.7541916dup NM_001008844:.1_2insA (M1fs) - DSP_000001 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. 1 c.1dup r.(?) p.(Met1?) - Unknown - VUS g.7542149dup g.7541916dup NM_001008844:.1_2insA (M1fs) - DSP_000001 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. 1 c.1dup r.(?) p.(Met1?) - Unknown - VUS g.7542149dup g.7541916dup NM_001008844:.1_2insA (M1fs) - DSP_000001 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. 1 c.1dup r.(?) p.(Met1?) - Unknown - VUS g.7542149dup g.7541916dup NM_001008844:.1_2insA (M1fs) - DSP_000001 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. 1 c.1dup r.(?) p.(Met1?) - Unknown - VUS g.7542149dup g.7541916dup NM_001008844:.1_2insA (M1fs) - DSP_000001 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. 1 c.1dup r.(?) p.(Met1?) - Unknown - VUS g.7542149dup g.7541916dup NM_001008844:.1_2insA (M1fs) - DSP_000001 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. 1 c.1dup r.(=) p.(Met1?) - Parent #1 - VUS g.7542149dup g.7541916dup NM_001008844:.1_2insA (M1fs) - DSP_000001 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 4/223 cases HCM - - - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - 4 Johan den Dunnen
-/. - c.1dup r.(?) p.(Met1?) - Unknown - benign g.7542149dup g.7541916dup DSP(NM_004415.2):c.-1_1insA, DSP(NM_004415.4):c.1dupA (p.M1?), DSP(NM_004415.4):c.2delTinsAT (p.M1?) - DSP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 1 c.1dup r.(?) p.(Met1?) - Unknown - benign g.7542149dup g.7541916dup -1_1insA - DSP_000001 - PubMed: Yu, ARVD/C database 7374 - rs17133512 Germline - - - - - DNA SEQ - - ? - PubMed: Yu - - - - - - - - - 1 Paul van der Zwaag
-/. - c.1dup r.(?) p.(Met1?) - Unknown - benign g.7542149dup g.7541916dup DSP(NM_004415.2):c.-1_1insA, DSP(NM_004415.4):c.1dupA (p.M1?), DSP(NM_004415.4):c.2delTinsAT (p.M1?) - DSP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1dup r.(?) p.(Met1?) - Unknown - benign g.7542149dup g.7541916dup DSP(NM_004415.2):c.-1_1insA, DSP(NM_004415.4):c.1dupA (p.M1?), DSP(NM_004415.4):c.2delTinsAT (p.M1?) - DSP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1dup r.(?) p.(Met1?) - Unknown - benign g.7542149dup g.7541916dup DSP(NM_004415.2):c.-1_1insA, DSP(NM_004415.4):c.1dupA (p.M1?), DSP(NM_004415.4):c.2delTinsAT (p.M1?) - DSP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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