Full data view for gene ABCA13

Information The variants shown are described using the NM_152701.3 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
Legend  

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     
+?/. 52 c.13648A>G r.(?) p.(Ala4550Thr) Unknown - - g.48556328A>G g.48516732A>G hg18 48,526,874G>A (T4550A) - ABCA13_000022 - PubMed: Knight 2009 - - Germline - 0.0014 - 0 - DNA SEQ - - ? - PubMed: Knight 2009 - - - - - - 0 - - 1 Johan den Dunnen
+?/. 52 c.13648A>G r.(?) p.(Ala4550Thr) Unknown - - g.48556328A>G g.48516732A>G hg18 48,526,874G>A (T4550A) - ABCA13_000022 conserved amino acid PubMed: Knight 2009 - - Germline - 3/938 - 0 - DNA SEQ - - ? - PubMed: Knight 2009 - - - - - - 0 - - 1 Johan den Dunnen
+?/. 52 c.13648A>G r.(?) p.(Ala4550Thr) Unknown - - g.48556328A>G g.48516732A>G hg18 48,526,874G>A (T4550A) - ABCA13_000022 conserved amino acid PubMed: Knight 2009 - - Germline - 8/482 - 0 - DNA SEQ - - MAFD - PubMed: Knight 2009 - - - - - - 0 - - 1 Johan den Dunnen
+?/. 52 c.13648A>G r.(?) p.(Ala4550Thr) Unknown - - g.48556328A>G g.48516732A>G hg18 48,526,874G>A (T4550A) - ABCA13_000022 conserved amino acid PubMed: Knight 2009 - - Germline - 1/265 - 0 - DNA SEQ - - MAFD - PubMed: Knight 2009 - - - - - - 0 - - 1 Johan den Dunnen
+?/. 52 c.13648A>G r.(?) p.(Ala4550Thr) Unknown - - g.48556328A>G g.48516732A>G hg18 48,526,874G>A (T4550A) - ABCA13_000022 - PubMed: Knight 2009 - - Germline - 0.0056 - 0 - DNA SEQ - - SCZD - PubMed: Knight 2009 - - - - - - 0 - - 1 Johan den Dunnen
+?/. 52 c.13648A>G r.(?) p.(Ala4550Thr) Unknown - - g.48556328A>G g.48516732A>G hg18 48,526,874G>A (T4550A) - ABCA13_000022 conserved amino acid PubMed: Knight 2009 - - Germline - 9/861 - 0 - DNA SEQ - - SCZD - PubMed: Knight 2009 - - - - - - 0 - - 1 Johan den Dunnen
Legend