All variants in the PAX4 gene

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

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
./. - c.-8318385_*6251054del r.0? p.0? - pathogenic g.121000064_135573959del - - - IMPDH1_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
+?/. - c.92G>A r.(?) p.(Arg31Gln) - likely pathogenic g.127255483C>T g.127615429C>T PAX4(NM_006193.2):c.92G>A (p.(Arg31Gln)) - PAX4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.92G>A r.(?) p.(Arg31Gln) - likely benign g.127255483C>T g.127615429C>T - - PAX4_000025 33 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs115887120 Germline - 33/2795 individuals - 0 - Mohammed Faruq
+?/. - c.244C>T r.(?) p.(Gln82*) - likely pathogenic g.127255026G>A - PAX4(NM_001366110.1):c.268C>T (p.Q90*) - PAX4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 3 c.374_412del r.337_412del p.Val113Leufs*69 - likely pathogenic g.127254537_127254575del g.127614483_127614521del - - PAX4_000023 Deletion of 3' part of exon 3 leads to exon 3 skipping. Variant not found in 150 control Japanese subjects. PubMed: Jo 2011 - - Unknown yes - - 0 - Jilani Jawaid
-?/. - c.574C>A r.(?) p.(Arg192Ser) - likely benign g.127253551G>T g.127613497G>T - - PAX4_000028 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3824004 Germline - 2/2794 individuals - 0 - Mohammed Faruq
-?/. - c.575G>A r.(?) p.(Arg192His) - likely benign g.127253550C>T g.127613496C>T - - PAX4_000027 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2233580 Germline - 3/2795 individuals - 0 - Mohammed Faruq
?/. - c.682C>G r.(?) p.(Gln228Glu) ACMG VUS g.127253085G>C g.127613031G>C - - PAX4_000029 ACMG grading: PM2 - - - Germline - - - 0 - Andreas Laner
-/. - c.748-3dup r.spl? p.? - benign g.127251743dup g.127611689dup PAX4(NM_006193.2):c.748-3dupT (p.?) - PAX4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+?/. 7i c.748-1G>A r.748_750del p.Gln250del - 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 - Jilani Jawaid
+?/. - c.748-1G>A r.spl? p.? - likely pathogenic g.127251731C>T g.127611677C>T - - PAX4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.962A>C r.(?) p.(His321Pro) - benign g.127251188T>G g.127611134T>G PAX4(NM_001366110.1):c.986A>C (p.H329P) - PAX4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.989C>T r.(?) p.(Ala330Val) - VUS g.127251161G>A g.127611107G>A PAX4(NM_006193.2):c.989C>T (p.(Ala330Val)) - PAX4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.*211A>G r.(=) p.(=) - benign g.127250907T>C g.127610853T>C PAX4(NM_001366111.1):c.1046A>G (p.*349Wext*2) - PAX4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
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