Full data view for gene SLC25A38

Information The variants shown are described using the NM_017875.2 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.11A>G r.(?) p.(Asn4Ser) Unknown - likely benign g.39425226A>G g.39383735A>G SLC25A38(NM_017875.2):c.11A>G (p.(Asn4Ser)), SLC25A38(NM_017875.4):c.11A>G (p.N4S) - SLC25A38_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.11A>G r.(?) p.(Asn4Ser) Unknown - VUS g.39425226A>G g.39383735A>G SLC25A38(NM_017875.2):c.11A>G (p.(Asn4Ser)), SLC25A38(NM_017875.4):c.11A>G (p.N4S) - SLC25A38_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.12C>T r.(?) p.(Asn4=) Unknown - likely benign g.39425227C>T g.39383736C>T SLC25A38(NM_017875.2):c.12C>T (p.(Asn4=)) - SLC25A38_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.161G>A r.(?) p.(Arg54His) Unknown - VUS g.39431077G>A - SLC25A38(NM_017875.4):c.161G>A (p.(Arg54His)) - SLC25A38_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.165G>A r.(?) p.(Leu55=) Unknown - benign g.39431081G>A g.39389590G>A SLC25A38(NM_017875.4):c.165G>A (p.L55=) - SLC25A38_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.165G>A r.(?) p.(Leu55=) Unknown - benign g.39431081G>A - SLC25A38(NM_017875.4):c.165G>A (p.L55=) - SLC25A38_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.176A>G r.(?) p.(Gln59Arg) Unknown - VUS g.39431092A>G - SLC25A38(NM_017875.4):c.176A>G (p.(Gln59Arg)) - SLC25A38_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.191+1G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.39431108G>T g.39389617G>T - - SLC25A38_000004 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA021 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
-?/. - c.239C>G r.(?) p.(Thr80Arg) Unknown - likely benign g.39431961C>G g.39390470C>G SLC25A38(NM_017875.2):c.239C>G (p.(Thr80Arg)), SLC25A38(NM_017875.4):c.239C>G (p.T80R) - SLC25A38_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.239C>G r.(?) p.(Thr80Arg) Unknown - likely benign g.39431961C>G - SLC25A38(NM_017875.2):c.239C>G (p.(Thr80Arg)), SLC25A38(NM_017875.4):c.239C>G (p.T80R) - SLC25A38_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.244_245del r.(?) p.(Leu83Phefs*869) Both (homozygous) ACMG likely pathogenic g.39431966_39431967del g.39390475_39390476del SLC25A38, NM_017875.2, c.244-245del, p.Leu83Phefs*69 - SLC25A38_000010 homozygous PubMed: Alfares 2018 - - Unknown ? frequency in 1500 in-house samples: 0 - - - DNA SEQ-NG - exome sequencing done at a commercial CAPaccredited laboratory retinal disease 37 PubMed: Alfares 2018 - F - - - - - - - 1 LOVD
-?/. - c.346T>G r.(?) p.(Leu116Val) Unknown - likely benign g.39433001T>G - SLC25A38(NM_017875.2):c.346T>G (p.(Leu116Val)) - SLC25A38_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.382A>G r.(?) p.(Met128Val) Parent #1 - likely benign g.39433037A>G g.39391546A>G - - SLC25A38_000008 8 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs146940902 Germline - 8/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 8 Mohammed Faruq
-?/. - c.382A>G r.(?) p.(Met128Val) Unknown - likely benign g.39433037A>G - - - SLC25A38_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.448C>T r.(?) p.(Arg150Cys) Unknown - VUS g.39433103C>T g.39391612C>T SLC25A38(NM_017875.4):c.448C>T (p.R150C) - SLC25A38_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.525G>C r.(?) p.(=) Unknown - likely benign g.39433412G>C - SLC25A38(NM_017875.4):c.525G>C (p.R175=) - SLC25A38_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.525G>C r.(?) p.(=) Unknown - likely benign g.39433412G>C - SLC25A38(NM_017875.4):c.525G>C (p.R175=) - SLC25A38_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.790A>T r.(?) p.(Lys264*) Both (homozygous) - pathogenic (recessive) g.39436065A>T g.39394574A>T - - SLC25A38_000005 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA236 PubMed: Ulirsch 2018 DBA case, uunaffected parents - - - - - - - - 1 Johan den Dunnen
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