Full data view for gene SLC25A24

Information The variants shown are described using the NM_213651.2 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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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.-7478G>T r.(?) p.(=) Unknown - likely benign g.108742721C>A - SLC25A24(NM_013386.4):c.40G>T (p.(Ala14Ser)) - SLC25A24_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-7455G>C r.(?) p.(=) Unknown - likely benign g.108742698C>G - SLC25A24(NM_013386.5):c.63G>C (p.P21=) - SLC25A24_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.23T>C r.(?) p.(Leu8Pro) Unknown - likely benign g.108735221A>G - SLC25A24(NM_213651.3):c.23T>C (p.(Leu8Pro)) - SLC25A24_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.41A>G r.(?) p.(Tyr14Cys) Unknown - likely benign g.108735203T>C g.108192581T>C SLC25A24(NM_213651.2):c.41A>G (p.Y14C) - SLC25A24_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/? 2 c.48G>A r.(?) p.(=) Both (homozygous) - likely benign g.108735196C>T g.108192574C>T chr1.hg19:g.108,735,196C>T (K17K) - SLC25A24_000001 not in dbSNP or 6 control chromosomes; note protein should have been reported as K16K and gene as SLC25A24 (not SLC25A25) PubMed: Walsh 2010 - - Germline - - - - - DNA SEQ - - DFNB - - 4-generation family, 7 affecteds, unaffected heterozygous family members M yes Palestine - >26y - - - 7 LOVD
?/. - c.284C>G r.(?) p.(Ser95Cys) Unknown - VUS g.108724620G>C - SLC25A24(NM_013386.5):c.341C>G (p.S114C) - SLC25A24_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.433C>T r.(?) p.(Arg145Cys) Unknown - likely benign g.108703824G>A g.108161202G>A SLC25A24(NM_013386.5):c.490C>T (p.(Arg164Cys), p.R164C) - SLC25A24_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.433C>T r.(?) p.(Arg145Cys) Unknown - VUS g.108703824G>A - SLC25A24(NM_013386.5):c.490C>T (p.(Arg164Cys), p.R164C) - SLC25A24_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.454-3C>T r.spl? p.? Unknown - likely benign g.108700245G>A g.108157623G>A SLC25A24(NM_013386.5):c.511-3C>T - SLC25A24_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.454-3C>T r.spl? p.? Unknown - likely benign g.108700245G>A - SLC25A24(NM_013386.5):c.511-3C>T - SLC25A24_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.463A>G r.(?) p.(Ile155Val) Unknown - VUS g.108700233T>C - SLC25A24(NM_013386.5):c.520A>G (p.I174V) - SLC25A24_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.592C>T r.(?) p.(Arg198Cys) Unknown - pathogenic g.108700104G>A g.108157482G>A NM_013386:c.649G>T - SLC25A24_000003 - PubMed: Writzl 2017 - - De novo - - - - - DNA SEQ - - ? 29100094-Pat3 PubMed: Writzl 2017 2-generation family, 1 affected, unaffected non-carrier parents F - Spain - - - - - 1 Johan den Dunnen
+/. - c.592C>T r.(?) p.(Arg198Cys) Unknown - pathogenic g.108700104G>A g.108157482G>A NM_013386:c.649C>T - SLC25A24_000003 - PubMed: Ehmke 2017 - - De novo - - - - - DNA SEQ - - ? 29100093-Pat5 PubMed: Ehmke 2017 2-generation family, 1 affected, unaffected non-carrier parents F - - Europe, north - - - - 1 Johan den Dunnen
+/. - c.592C>T r.(?) p.(Arg198Cys) Unknown - pathogenic g.108700104G>A - SLC25A24(NM_013386.5):c.649C>T (p.R217C) - SLC25A24_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.593G>A r.(?) p.(Arg198His) Unknown - pathogenic g.108700103C>T g.108157481C>T NM_013386:c.650G>A - SLC25A24_000002 - PubMed: Writzl 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 29100094-Pat1 PubMed: Writzl 2017 2-generation family, 1 affected, unaffected non-carrier parents M - Slovenia - - - - - 1 Johan den Dunnen
+/. - c.593G>A r.(?) p.(Arg198His) Unknown - pathogenic g.108700103C>T g.108157481C>T NM_013386:c.650G>A - SLC25A24_000002 - PubMed: Writzl 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 29100094-Pat2 PubMed: Writzl 2017 2-generation family, 1 affected, unaffected non-carrier parents M - France - - - - - 1 Johan den Dunnen
+/. - c.593G>A r.(?) p.(Arg198His) Unknown - pathogenic g.108700103C>T g.108157481C>T NM_013386:c.650G>A - SLC25A24_000002 - PubMed: Writzl 2017 - - De novo - - - - - DNA SEQ - - ? 29100094-Pat4 PubMed: Writzl 2017 2-generation family, 1 affected, unaffected non-carrier parents F - Italy - - - - - 1 Johan den Dunnen
+/. - c.593G>A r.(?) p.(Arg198His) Unknown - pathogenic g.108700103C>T g.108157481C>T NM_013386:c.650G>A - SLC25A24_000002 - PubMed: Ehmke 2017 - - De novo - - - - - DNA SEQ - - ? 29100093-Pat1 PubMed: Ehmke 2017 2-generation family, 1 affected, unaffected non-carrier parents F - Poland - - - - - 1 Johan den Dunnen
+/. - c.593G>A r.(?) p.(Arg198His) Unknown - pathogenic g.108700103C>T g.108157481C>T NM_013386:c.650G>A - SLC25A24_000002 - PubMed: Ehmke 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 29100093-Pat2 PubMed: Ehmke 2017 2-generation family, 1 affected, unaffected non-carrier parents F - Hungary - - - - - 1 Johan den Dunnen
+/. - c.593G>A r.(?) p.(Arg198His) Unknown - pathogenic g.108700103C>T g.108157481C>T NM_013386:c.650G>A - SLC25A24_000002 - PubMed: Ehmke 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 29100093-Pat3 PubMed: Ehmke 2017 2-generation family, 1 affected, unaffected non-carrier parents F - Germany - - - - - 1 Johan den Dunnen
+/. - c.593G>A r.(?) p.(Arg198His) Unknown - pathogenic g.108700103C>T g.108157481C>T NM_013386:c.650G>A - SLC25A24_000002 - PubMed: Ehmke 2017 - - De novo - - - - - DNA SEQ - - ? 29100093-Pat4 PubMed: Ehmke 2017 2-generation family, 1 affected, unaffected non-carrier parents F - Turkey - - - - - 1 Johan den Dunnen
+/. - c.593G>A r.(?) p.(Arg198His) Unknown - pathogenic g.108700103C>T g.108157481C>T SLC25A24(NM_013386.4):c.650G>A (p.(Arg217His)) - SLC25A24_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.593G>A r.(?) p.(Arg198His) Unknown - pathogenic g.108700103C>T - SLC25A24(NM_013386.4):c.650G>A (p.(Arg217His)) - SLC25A24_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.649C>T r.(?) p.(Arg217Cys) Unknown - likely pathogenic g.108700104G>A g.108157482G>A NM_013386.4:c.649C>T - SLC25A24_000003 - PubMed: Lefebvre 2021 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES ? - PubMed: Lefebvre 2021 fetus F - France - - - - - 1 Johan den Dunnen
?/. - c.689C>G r.(?) p.(Ser230Trp) Unknown - VUS g.108697681G>C g.108155059G>C - - SLC25A24_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.808T>C r.(?) p.(Phe270Leu) Unknown - likely benign g.108690966A>G - SLC25A24(NM_013386.4):c.865T>C (p.(Phe289Leu)) - SLC25A24_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.874-242C>G r.(=) p.(=) Unknown - likely benign g.108686574G>C - SLC25A24(NM_013386.5):c.931-242C>G - SLC25A24_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.874-9dup r.(=) p.(=) Unknown - likely benign g.108686349dup - SLC25A24(NM_013386.5):c.931-9dup - SLC25A24_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1043T>C r.(?) p.(Leu348Pro) Unknown - likely benign g.108681829A>G - SLC25A24(NM_013386.4):c.1100T>C (p.(Leu367Pro)) - SLC25A24_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1082C>G r.(?) p.(Ser361Cys) Unknown - likely benign g.108681790G>C - SLC25A24(NM_013386.5):c.1139C>G (p.S380C) - SLC25A24_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1132A>C r.(?) p.(Thr378Pro) Unknown - likely benign g.108681740T>G - SLC25A24(NM_013386.5):c.1189A>C (p.T397P) - SLC25A24_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1180A>G r.(?) p.(Met394Val) Unknown - VUS g.108681692T>C - SLC25A24(NM_013386.5):c.1237A>G (p.(Met413Val)) - SLC25A24_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1286C>T r.(?) p.(Thr429Ile) Unknown - VUS g.108679366G>A - SLC25A24(NM_013386.5):c.1343C>T (p.(Thr448Ile)) - SLC25A24_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1337A>G r.(?) p.(Tyr446Cys) Unknown - VUS g.108679315T>C - SLC25A24(NM_013386.5):c.1394A>G (p.Y465C, p.(Tyr465Cys)) - SLC25A24_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1337A>G r.(?) p.(Tyr446Cys) Unknown - likely benign g.108679315T>C - SLC25A24(NM_013386.5):c.1394A>G (p.Y465C, p.(Tyr465Cys)) - SLC25A24_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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