Full data view for gene AAK1

Information The variants shown are described using the NM_014911.3 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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.1169C>G r.(?) p.(Pro390Arg) Unknown - VUS g.69748007G>C g.69520875G>C AAK1(NM_014911.3):c.1169C>G (p.(Pro390Arg)) - AAK1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1210+476_1210+477del r.(=) p.(=) Both (homozygous) - VUS g.69747490_69747491del g.69520358_69520359del - - AAK1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.1297G>T r.(?) p.(Ala433Ser) Unknown - likely benign g.69746286C>A - AAK1(NM_014911.4):c.1297G>T (p.A433S) - AAK1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1473G>A r.(?) p.(Gln491=) Unknown - likely benign g.69746110C>T g.69518978C>T AAK1(NM_014911.4):c.1473G>A (p.Q491=) - AAK1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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