Unique variants in gene SLC25A1

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

34 entries on 1 page. Showing entries 1 - 34.
Legend  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
./. 1 - c.-2664376_*324356dup r.? p.? - pathogenic (recessive) 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? - pathogenic (recessive) 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? - pathogenic (recessive) 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? - pathogenic (recessive) g.18889039_21464119del - - - ARVCF_000002 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
-?/. 1 - c.-4912G>A r.(?) p.(=) - likely benign g.19171098C>T g.19183585C>T CLTCL1(NM_007098.3):c.4632G>A (p.S1544=) - CLTCL1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 6 1 c.18_24dup r.(?) p.(Ala9Profs*82) - pathogenic (recessive) g.19166177_19166183dup, g.19166163_19166169dup g.19178664_19178670dup, g.19178650_19178656dup - - SLC25A1_000005 - PubMed: Nota 2013, Journal: Nota 2013, PubMed: Pop 2018, Journal: Pop 2018, PubMed: Prasun 2015, 1 more item - - Germline yes - - - - Gajja Salomons, Johan den Dunnen
+/., +?/+? 2 1 c.82G>A r.(?) p.(Ala28Thr), p.Ala28Thr - pathogenic (recessive), NA g.19166105C>T g.19178592C>T - - SLC25A1_000019, SLC25A1_000026 overexpression in deficient fibroblasts showed reduced CIC activity: see discussion in article PubMed: Pop 2018, Journal: Pop 2018 - - Germline, In vitro (cloned) - - - - - Gajja Salomons, Eric Wever
-/., -?/. 2 - c.95-70G>C r.(=) p.(=) - benign, likely benign g.19165823C>G g.19178310C>G SLC25A1(NM_001256534.1):c.46G>C (p.G16R), SLC25A1(NM_001256534.2):c.46G>C (p.G16R) - CLTCL1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+/., +?/+? 2 2 c.119T>A r.(?) p.(Ile40Asn), p.Ile40Asn - pathogenic (recessive), NA g.19165729A>T g.19178216A>T - - SLC25A1_000017, SLC25A1_000027 overexpression in deficient fibroblasts showed reduced CIC activity: see discussion in article PubMed: Pop 2018, Journal: Pop 2018 - - Germline, In vitro (cloned) - - - - - Gajja Salomons, Eric Wever
+/., +/+ 3 2 c.134C>T r.(?) p.(Pro45Leu), p.Pro45Leu - pathogenic (recessive), NA g.19165714G>A g.19178201G>A - - SLC25A1_000007, SLC25A1_000028 overexpression in deficient fibroblasts showed severely impaired CIC activity (below 25%) PubMed: Nota 2013, Journal: Nota 2013, PubMed: Pop 2018, Journal: Pop 2018, PubMed: Prasun 2015 - - Germline, In vitro (cloned) yes - - - - Gajja Salomons, Johan den Dunnen, Eric Wever
+/., +/+ 2 2 c.139G>A r.(?) p.(Glu47Lys), p.Glu47Lys - pathogenic (recessive), NA g.19165709C>T g.19178196C>T - - SLC25A1_000014, SLC25A1_000029 overexpression in deficient fibroblasts showed severely impaired CIC activity (below 25%) PubMed: Pop 2018, Journal: Pop 2018 - - Germline, In vitro (cloned) - - - - - Gajja Salomons, Eric Wever
+/., +/+ 2 3 c.278G>A r.(?) p.(Gly93Asp), p.Gly93Asp - pathogenic (recessive), NA g.19165479C>T g.19177966C>T - - SLC25A1_000015, SLC25A1_000030 overexpression in deficient fibroblasts showed severely impaired CIC activity (below 25%) PubMed: Pop 2018, Journal: Pop 2018 - - Germline, In vitro (cloned) - - - - - Gajja Salomons, Eric Wever
?/. 1 - c.350dup r.(?) p.(Arg118ThrfsTer52) - VUS g.19165333dup g.19177820dup SLC25A1(NM_001256534.1):c.371dup (p.(Arg125ThrfsTer52)) - CLTCL1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/., +/+ 3 4 c.389G>A r.(?) p.(Gly130Asp), p.Gly130Asp - pathogenic (recessive), NA g.19165292C>T g.19177779C>T - - SLC25A1_000021, SLC25A1_000031 overexpression in deficient fibroblasts showed severely impaired CIC activity (below 25%) PubMed: Chaouch 2014, Journal: Chaouch 2014, PubMed: Edvardson 2013, Journal: Edvardson 2013, 1 more item - - Germline, In vitro (cloned) - - - - - Gajja Salomons, Johan den Dunnen, Eric Wever
+/., +/+ 2 4 c.430G>C r.(?) p.(Glu144Gln), p.Glu144Gln - pathogenic (recessive), NA g.19165251C>G g.19177738C>G - - SLC25A1_000009, SLC25A1_000032 overexpression in deficient fibroblasts showed severely impaired CIC activity (below 25%) PubMed: Nota 2013, Journal: Nota 2013, PubMed: Pop 2018, Journal: Pop 2018 - - Germline, In vitro (cloned) - - - - - Gajja Salomons, Eric Wever
?/. 1 - c.457G>T r.(?) p.(Asp153Tyr) - VUS g.19164702C>A g.19177189C>A SLC25A1(NM_005984.4):c.457G>T (p.D153Y) - SLC25A1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/+? 2 5 c.499G>A r.(?) p.(Gly167Arg), p.Gly167Arg - pathogenic (recessive), NA g.19164660C>T g.19177147C>T - - SLC25A1_000006, SLC25A1_000033 compound heterozygous, 1 more item PubMed: Nota 2013, Journal: Nota 2013, PubMed: Pop 2018, Journal: Pop 2018 - - Germline, In vitro (cloned) - - - - - Gajja Salomons, Eric Wever
+/. 2 5 c.517_526del r.(?) p.(Arg173Glyfs*2) - pathogenic (recessive) g.19164634_19164643del, g.19164633_19164642del g.19177121_19177130del, g.19177120_19177129del - - SLC25A1_000012 - PubMed: Nota 2013, Journal: Nota 2013, PubMed: Pop 2018, Journal: Pop 2018, 1 more item - - Germline - - - - - Gajja Salomons, Johan den Dunnen
+/., +?/+? 3 6 c.578C>G r.(?) p.(Ser193Trp), p.Ser193Trp - pathogenic (recessive), NA g.19164412G>C g.19176899G>C - - SLC25A1_000003, SLC25A1_000035 overexpression in deficient fibroblasts showed reduced CIC activity: see discussion in article PubMed: Nota 2013, Journal: Nota 2013, PubMed: Pop 2018, Journal: Pop 2018, 1 more item - - Germline, In vitro (cloned) - - - - - Gajja Salomons, Johan den Dunnen, Eric Wever
+/., +/+ 2 6 c.593G>A r.(?) p.(Arg198His), p.Arg198His - pathogenic (recessive), NA g.19164397C>T g.19176884C>T - - SLC25A1_000016, SLC25A1_000036 overexpression in deficient fibroblasts showed severely impaired CIC activity (below 25%) PubMed: Pop 2018, Journal: Pop 2018, Journal: Smith 2016, Journal: Pop 2018 - - Germline, In vitro (cloned) - - - - - Gajja Salomons, Eric Wever
+/., +?/+? 2 6 c.605T>C r.(?) p.(Met202Thr), p.Met202Thr - pathogenic (recessive), NA g.19164385A>G g.19176872A>G - - SLC25A1_000025, SLC25A1_000037 overexpression in deficient fibroblasts showed reduced CIC activity: see discussion in article PubMed: Nota 2013, Journal: Nota 2013, PubMed: Pop 2018, Journal: Pop 2018 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen, Eric Wever
+/. 1 6 c.605T>G r.(?) p.(Met202Arg) - pathogenic (recessive) g.19164385A>C g.19176872A>C - - SLC25A1_000010 - PubMed: Pop 2018, Journal: Pop 2018 - - Germline - - - - - Gajja Salomons
-?/. 1 - c.632-3C>T r.spl? p.? - likely benign g.19164209G>A g.19176696G>A SLC25A1(NM_005984.4):c.632-3C>T - SLC25A1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 7 c.648_655del r.(?) p.(Met218Serfs*25) - pathogenic (recessive) g.19164184_19164191del g.19176671_19176678del - - SLC25A1_000018 - PubMed: Pop 2018, Journal: Pop 2018 - - Germline - - - - - Gajja Salomons
+/., +?/+? 2 7 c.740G>A r.(?) p.(Arg247Gln), p.Arg247Gln - pathogenic (recessive), NA g.19164098C>T g.19176585C>T - - SLC25A1_000022, SLC25A1_000039 overexpression in deficient fibroblasts showed reduced CIC activity: see discussion in article PubMed: Chaouch 2014, Journal: Chaouch 2014, 1 more item - - Germline, In vitro (cloned) - - - - - Gajja Salomons, Eric Wever
+/., +/+ 2 8 c.768C>G r.(?) p.(Tyr256*), p.Tyr256* - pathogenic (recessive), NA g.19163987G>C g.19176474G>C - - SLC25A1_000008, SLC25A1_000040 overexpression in deficient fibroblasts showed severely impaired CIC activity (below 25%) PubMed: Nota 2013, Journal: Nota 2013, PubMed: Pop 2018, Journal: Pop 2018 - - Germline, In vitro (cloned) - - - - - Gajja Salomons, Eric Wever
+/., +?/+? 2 8 c.784T>C r.(?) p.(Cys262Arg), p.Cys262Arg - pathogenic (recessive), NA g.19163971A>G g.19176458A>G - - SLC25A1_000013, SLC25A1_000041 overexpression in deficient fibroblasts showed reduced CIC activity: see discussion in article PubMed: Pop 2018, Journal: Pop 2018 - - Germline, In vitro (cloned) - - - - - Gajja Salomons, Eric Wever
+/. 3 8 c.821C>T r.820_821del p.Ala274Ilefs*24 - pathogenic (recessive) g.19163934G>A g.19176421G>A - - SLC25A1_000004 - PubMed: Nota 2013, Journal: Nota 2013, PubMed: Pop 2018, Journal: Pop 2018 - - Germline - - - - - Gajja Salomons, Johan den Dunnen
+/., +/+ 2 09, 9 c.844C>G r.(?) p.(Arg282Gly), p.Arg282Gly - pathogenic (recessive), NA g.19163735G>C g.19176222G>C - - SLC25A1_000001, SLC25A1_000043 overexpression in deficient fibroblasts showed severely impaired CIC activity (below 25%) PubMed: Nota 2013, Journal: Nota 2013, PubMed: Pop 2018, Journal: Pop 2018 - rs431905509 Germline, In vitro (cloned) - - - - - Gajja Salomons, Eric Wever
+/., +/+ 3 9 c.844C>T r.(?) p.(Arg282Cys), p.Arg282Cys - pathogenic (recessive), NA g.19163735G>A g.19176222G>A - - SLC25A1_000002, SLC25A1_000044 overexpression in deficient fibroblasts showed severely impaired CIC activity (below 25%) PubMed: Nota 2013, Journal: Nota 2013, PubMed: Pop 2018, Journal: Pop 2018, 1 more item - - Germline, In vitro (cloned) - - - - - Gajja Salomons, Johan den Dunnen, Eric Wever
+/., +/+ 3 9 c.845G>A r.(?) p.(Arg282His), p.Arg282His - pathogenic (recessive), NA g.19163734C>T g.19176221C>T - - SLC25A1_000020, SLC25A1_000045 overexpression in deficient fibroblasts showed severely impaired CIC activity (below 25%) PubMed: Chaouch 2014, Journal: Chaouch 2014, PubMed: Edvardson 2013, Journal: Edvardson 2013, 1 more item - - Germline, In vitro (cloned) - - - - - Gajja Salomons, Johan den Dunnen, Eric Wever
+/., +?/+? 2 9 c.890A>G r.(?) p.(Tyr297Cys), p.Tyr297Cys - pathogenic (recessive), NA g.19163689T>C g.19176176T>C - - SLC25A1_000011, SLC25A1_000046 overexpression in deficient fibroblasts showed reduced CIC activity: see discussion in article PubMed: Nota 2013, Journal: Nota 2013, PubMed: Pop 2018, Journal: Pop 2018 - - Germline, In vitro (cloned) - - - - - Gajja Salomons, Eric Wever
-?/. 2 - c.894T>C r.(?) p.(Asp298=) - likely benign g.19163685A>G g.19176172A>G SLC25A1(NM_005984.4):c.894T>C (p.D298=) - CLTCL1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.927G>A r.(?) p.(Lys309=) - likely benign g.19163652C>T g.19176139C>T SLC25A1(NM_005984.4):c.927G>A (p.K309=) - CLTCL1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
Legend