Full data view for gene ABCA11P

Information The variants shown are described using the NR_002451.2 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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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     
./. - n.-2907639_*347672del r.0? p.0? Unknown - pathogenic g.71552_3375637del - - - IDUA_000000 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - 0 Decipher - 2 Johan den Dunnen
-?/. - n.357-16542G>A r.(?) - Unknown - likely benign g.437304C>T g.443515C>T ZNF721(NM_133474.4):c.952G>A (p.A318T) - ABCA11P_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.357-16407T>C r.(?) - Unknown - VUS g.437169A>G g.443380A>G ZNF721(NM_133474.4):c.1087T>C (p.C363R) - ABCA11P_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - n.357-15850G>C r.(?) - Unknown - likely benign g.436612C>G g.442823C>G ZNF721(NM_133474.4):c.1644G>C (p.R548S) - ABCA11P_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.357-15772A>G r.(?) - Unknown - likely benign g.436534T>C g.442745T>C ZNF721(NM_133474.4):c.1722A>G (p.V574=) - ABCA11P_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.357-15617C>T r.(?) - Unknown - VUS g.436379G>A g.442590G>A ZNF721(NM_133474.4):c.1877C>T (p.T626M) - ABCA11P_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.357-15235del r.(?) - Unknown - VUS g.435997del g.442208del ZNF721(NM_133474.4):c.2259delC (p.Y753*) - ABCA11P_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.357-15195C>A r.(?) - Unknown - likely benign g.435957G>T g.442168G>T ZNF721(NM_133474.4):c.2299C>A (p.H767N) - ABCA11P_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.357-15121G>A r.(?) - Unknown - likely benign g.435883C>T g.442094C>T ZNF721(NM_133474.4):c.2373G>A (p.T791=) - ABCA11P_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.357-15090A>G r.(?) - Unknown - likely benign g.435852T>C g.442063T>C ZNF721(NM_133474.4):c.2404A>G (p.I802V) - ABCA11P_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - n.357-15011_357-15007del r.(?) - Unknown - VUS g.435770_435774del g.441981_441985del ZNF721(NM_133474.4):c.2483_2487delGGAGA (p.R828Nfs*11) - ABCA11P_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.357-14849C>T r.(?) - Unknown - likely benign g.435611G>A g.441822G>A ZNF721(NM_133474.4):c.2645C>T (p.A882V) - ABCA11P_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.357-14760A>G r.(?) - Unknown - likely benign g.435522T>C g.441733T>C ZNF721(NM_133474.4):c.2734A>G (p.K912E) - ABCA11P_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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