Full data view for gene JSRP1

Information The variants shown are described using the NM_144616.3 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.281C>T r.(?) p.(Ala94Val) Unknown - VUS g.2253774G>A g.2253775G>A JSRP1(NM_144616.3):c.281C>T (p.(Ala94Val)) - JSRP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 5 c.323C>T r.(?) p.(Pro108Leu) Unknown - pathogenic g.2253732G>A g.2253733G>A - - JSRP1_000001 - PubMed: Yasuda et al. 2012 - - Unknown - 2/63 - - - DNA PCR - - Healthy/Control - - - - no Switzerland white - - - - 63 Susan Treves
+/? 5 c.323C>T r.(?) p.(Pro108Leu) Unknown - pathogenic g.2253732G>A g.2253733G>A - - JSRP1_000001 - PubMed: Yasuda et al. 2012 - - Unknown - 2/57 - - - DNA PCR - - MHS1 - - - - no Switzerland white - - - - 57 Susan Treves
+/? 6 c.449G>C r.(?) p.(Gly150Ala) Unknown - pathogenic g.2252990C>G g.2252991C>G - - JSRP1_000002 - PubMed: Yasuda et al. 2012 - - Unknown - 24/63 - - - DNA PCR - - Healthy/Control - - - - no Switzerland white - - - - 63 Susan Treves
+/? 6 c.449G>C r.(?) p.(Gly150Ala) Unknown - pathogenic g.2252990C>G g.2252991C>G - - JSRP1_000002 - PubMed: Yasuda et al. 2012 - - Unknown - 20/57 - - - DNA PCR - - MHS1 - - - - no Switzerland white - - - - 57 Susan Treves
?/. - c.*398C>A r.(=) p.(=) Unknown - VUS g.2251930G>T g.2251931G>T AMH(NM_000479.4):c.1657G>T (p.V553L) - AMH_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*499G>A r.(=) p.(=) Unknown - likely benign g.2251829C>T g.2251830C>T AMH(NM_000479.4):c.1556C>T (p.A519V) - AMH_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*511A>G r.(=) p.(=) Unknown - benign g.2251817T>C g.2251818T>C AMH(NM_000479.4):c.1544T>C (p.V515A) - AMH_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*511A>G r.(=) p.(=) Unknown - benign g.2251817T>C g.2251818T>C AMH(NM_000479.4):c.1544T>C (p.V515A) - AMH_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*592C>T r.(=) p.(=) Unknown - VUS g.2251736G>A g.2251737G>A AMH(NM_000479.4):c.1463G>A (p.C488Y) - AMH_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*816A>T r.(=) p.(=) Unknown - benign g.2251512T>A g.2251513T>A AMH(NM_000479.4):c.1239T>A (p.G413=) - AMH_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*816A>T r.(=) p.(=) Unknown - benign g.2251512T>A g.2251513T>A AMH(NM_000479.4):c.1239T>A (p.G413=) - AMH_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*816A>T r.(=) p.(=) Unknown - benign g.2251512T>A g.2251513T>A AMH(NM_000479.4):c.1239T>A (p.G413=) - AMH_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.*942C>T r.(=) p.(=) Unknown - pathogenic g.2251386G>A g.2251387G>A AMH(NM_000479.4):c.1113G>A (p.W371*) - JSRP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1001G>A r.(=) p.(=) Unknown - likely benign g.2251327C>T g.2251328C>T AMH(NM_000479.4):c.1054C>T (p.P352S) - AMH_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*1088A>G r.(=) p.(=) Unknown - likely benign g.2251240T>C - AMH(NM_000479.4):c.967T>C (p.F323L) - JSRP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*1150C>T r.(=) p.(=) Unknown - likely pathogenic g.2251178G>A - AMH(NM_000479.4):c.905G>A (p.R302Q) - JSRP1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1191G>C r.(=) p.(=) Unknown - VUS g.2251137C>G - AMH(NM_000479.4):c.864C>G (p.D288E) - JSRP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*1443_*1444insTG r.(=) p.(=) Unknown - pathogenic g.2250884_2250885insCA g.2250885_2250886insCA AMH(NM_000479.4):c.701_702insCA (p.F235Sfs*12) - JSRP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*1669G>T r.(=) p.(=) Unknown - pathogenic g.2250659C>A - AMH(NM_000479.4):c.564C>A (p.C188*) - JSRP1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1844dup r.(?) p.(=) Unknown - VUS g.2250484dup g.2250485dup AMH(NM_000479.3):c.555+5_555+6insA (p.?), AMH(NM_000479.4):c.555+6dupA - AMH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*1844dup r.(?) p.(=) Unknown - likely benign g.2250484dup g.2250485dup AMH(NM_000479.3):c.555+5_555+6insA (p.?), AMH(NM_000479.4):c.555+6dupA - AMH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1954G>A r.(=) p.(=) Unknown - VUS g.2250374C>T g.2250375C>T AMH(NM_000479.4):c.451C>T (p.P151S) - JSRP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2694C>T r.(=) p.(=) Unknown - benign g.2249634G>A g.2249635G>A AMH(NM_000479.4):c.303G>A (p.G101=) - AMH_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*2745C>T r.(=) p.(=) Unknown - benign g.2249583G>A g.2249584G>A AMH(NM_000479.4):c.252G>A (p.L84=) - AMH_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.*2794dup r.(?) p.(=) Unknown - pathogenic g.2249539dup g.2249540dup AMH(NM_000479.4):c.208dupC (p.L70Pfs*11) - AMH_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*2851C>A r.(=) p.(=) Unknown - benign g.2249477G>T g.2249478G>T AMH(NM_000479.4):c.146G>T (p.S49I) - AMH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*2851C>A r.(=) p.(=) Unknown - benign g.2249477G>T g.2249478G>T AMH(NM_000479.4):c.146G>T (p.S49I) - AMH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*2851C>A r.(=) p.(=) Unknown - benign g.2249477G>T g.2249478G>T AMH(NM_000479.4):c.146G>T (p.S49I) - AMH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*2924G>A r.(=) p.(=) Unknown - likely benign g.2249404C>T g.2249405C>T AMH(NM_000479.4):c.73C>T (p.L25F) - AMH_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*2962A>C r.(=) p.(=) Unknown - VUS g.2249366T>G - AMH(NM_000479.4):c.35T>G (p.V12G) - JSRP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2993G>A r.(=) p.(=) Unknown - VUS g.2249335C>T - AMH(NM_000479.4):c.4C>T (p.R2W) - JSRP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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