Full data view for gene PAX4

Information The variants shown are described using the NM_006193.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+?/. 7i c.748-1G>A r.748_750del p.Gln250del Unknown - likely pathogenic g.127251731C>T g.127611677C>T PAX4 IVS7-1G>A - PAX4_000009 Variant not found in 344 non-diabetic control subjects. PubMed: Sujjitjoon 2015 - - Unknown yes - - 0 - DNA, RNA minigene, PCR, RFLP, RT-PCRq, SEQ blood - MODY-9 Proband-Fam PubMed: Sujjitjoon 2015 Proband and affected daughter. Three sisters and one brother (all deceased) had diabetic retinopathy and nephropathy, with diabetes starting at ages 30 - 52. F ? Thailand - - 0 - - 2 Jilani Jawaid
+?/. - c.748-1G>A r.spl? p.? Unknown - likely pathogenic g.127251731C>T g.127611677C>T - - PAX4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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