Unique variants in gene SLC25A1

Information The variants shown are described using the NM_005984.3 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
./. 1 - c.-2664376_*324356dup - r.? p.? g.18839287_21830562dup - - - ARVCF_000005 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
./. 1 - c.-2297933_*140480del - r.0? p.0? g.19023163_21464119del - - - ARVCF_000004 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
./. 1 - c.-2297933_*270080del - r.0? p.0? g.18893563_21464119del - - - ARVCF_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
./. 1 - c.-2297933_*274604del - r.0? p.0? g.18889039_21464119del - - - ARVCF_000002 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
-?/. 1 - c.-4912G>A likely benign r.(?) p.(=) g.19171098C>T - CLTCL1(NM_007098.3):c.4632G>A (p.S1544=) - CLTCL1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.95-70G>C benign r.(=) p.(=) g.19165823C>G - SLC25A1(NM_001256534.1):c.46G>C (p.G16R) - CLTCL1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.350dup VUS r.(?) p.(Arg118Thrfs*52) g.19165333dup - SLC25A1(NM_001256534.1):c.371dup (p.(Arg125ThrfsTer52)) - CLTCL1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.457G>T VUS r.(?) p.(Asp153Tyr) g.19164702C>A - SLC25A1(NM_005984.4):c.457G>T (p.D153Y) - SLC25A1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.632-3C>T likely benign r.spl? p.? g.19164209G>A - SLC25A1(NM_005984.4):c.632-3C>T - SLC25A1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.927G>A likely benign r.(?) p.(=) g.19163652C>T - SLC25A1(NM_005984.4):c.927G>A (p.K309=) - CLTCL1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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