Full data view for gene SLC10A3

Information The variants shown are described using the NM_019848.3 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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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.-1003926_*150005dup - - Maternal (confirmed) - pathogenic g.153565841_154722429dup g.154337626_155494214dup - - DKC1_000000 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. - c.-142605_*145438dup r.0? p.0? Maternal (inferred) - pathogenic g.153570408_153861108dup g.154342193_154632893dup GDI1 - FLNA_000307 - PubMed: Hu 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamMRX75/D13 PubMed: Hu 2016 family, 1 affected, 4 unaffected heterozygous carrier females M - - - - - - - 1 Johan den Dunnen
-?/. - c.243C>T r.(?) p.(Asp81=) Unknown - likely benign g.153717037G>A g.154488698G>A SLC10A3(NM_019848.4):c.243C>T (p.D81=) - SLC10A3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.258C>T r.(?) p.(Ile86=) Unknown - likely benign g.153717022G>A - SLC10A3(NM_019848.4):c.258C>T (p.I86=) - SLC10A3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.544G>A r.(?) p.(Ala182Thr) Unknown - VUS g.153716736C>T g.154488397C>T SLC10A3(NM_001142391.2):c.457G>A (p.(Ala153Thr)), SLC10A3(NM_019848.4):c.544G>A (p.A182T), SLC10A3(NM_019848.5):c.544G>A (p.A182T) - SLC10A3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.544G>A r.(?) p.(Ala182Thr) Parent #1 - VUS g.153716736C>T g.154488397C>T A182T - SLC10A3_000003 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.544G>A r.(?) p.(Ala182Thr) Unknown - likely benign g.153716736C>T g.154488397C>T SLC10A3(NM_001142391.2):c.457G>A (p.(Ala153Thr)), SLC10A3(NM_019848.4):c.544G>A (p.A182T), SLC10A3(NM_019848.5):c.544G>A (p.A182T) - SLC10A3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.544G>A r.(?) p.(Ala182Thr) Unknown - likely benign g.153716736C>T g.154488397C>T SLC10A3(NM_001142391.2):c.457G>A (p.(Ala153Thr)), SLC10A3(NM_019848.4):c.544G>A (p.A182T), SLC10A3(NM_019848.5):c.544G>A (p.A182T) - SLC10A3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.547G>A r.(?) p.(Asp183Asn) Unknown - likely benign g.153716733C>T g.154488394C>T SLC10A3(NM_019848.4):c.547G>A (p.D183N) - SLC10A3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.972G>C r.(?) p.(Leu324=) Unknown - likely benign g.153716308C>G - SLC10A3(NM_019848.4):c.972G>C (p.L324=) - SLC10A3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.986T>C r.(?) p.(Phe329Ser) Unknown - VUS g.153716294A>G g.154487955A>G SLC10A3(NM_001142391.2):c.899T>C (p.(Phe300Ser)) - SLC10A3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1060G>A r.(?) p.(Val354Ile) Unknown - likely benign g.153716220C>T g.154487881C>T SLC10A3(NM_001142391.2):c.973G>A (p.(Val325Ile)) - SLC10A3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.1213A>G r.(?) p.(Thr405Ala) Parent #1 - VUS g.153716067T>C g.154487728T>C T405A - SLC10A3_000005 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.1316G>A r.(?) p.(Arg439His) Unknown - VUS g.153715964C>T - SLC10A3(NM_019848.4):c.1316G>A (p.R439H) - SLC10A3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1531G>A r.(=) p.(=) Unknown - likely benign g.153714315C>T - UBL4A(NM_014235.5):c.158G>A (p.G53E) - SLC10A3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1615_*1617del r.(=) p.(=) Unknown - VUS g.153714234_153714236del - UBL4A(NM_014235.5):c.242_244delAAG (p.E81del) - SLC10A3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1696G>C r.(=) p.(=) Unknown - VUS g.153714150C>G g.154485811C>G UBL4A(NM_014235.3):c.323G>C (p.(Ser108Thr)) - UBL4A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2059G>A r.(=) p.(=) Unknown - benign g.153713787C>T g.154485448= UBL4A(NM_014235.5):c.*91G>A - UBL4A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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