Full data view for gene AASS

Information The variants shown are described using the NM_005763.3 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.-13789760_*716479del r.0? p.0? Unknown - pathogenic g.121000064_135573959del - - - IMPDH1_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
?/. - c.394C>T r.(?) p.(Arg132Cys) Unknown - VUS g.121766507G>A g.122126453G>A AASS(NM_005763.3):c.394C>T (p.R132C) - AASS_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.696A>C r.(?) p.(Gln232His) Unknown - VUS g.121757003T>G - - - AASS_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.709G>T r.(?) p.(Glu237*) Unknown - pathogenic g.121756990C>A - AASS(NM_005763.3):c.709G>T (p.E237*) - AASS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.894+3G>T r.spl? p.? Unknown - VUS g.121756684C>A - AASS(NM_005763.3):c.894+3G>T - AASS_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.992C>T r.(?) p.(Pro331Leu) Unknown - VUS g.121755179G>A g.122115125G>A - - AASS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1092G>T r.(?) p.(Glu364Asp) Unknown - VUS g.121753726C>A g.122113672C>A AASS(NM_005763.3):c.1092G>T (p.E364D) - AASS_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1179G>A r.(?) p.(Ser393=) Unknown - likely benign g.121753271C>T - AASS(NM_005763.3):c.1179G>A (p.S393=) - AASS_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1407-13_1407-7dup r.(=) p.(=) Unknown - likely benign g.121738944_121738950dup g.122098890_122098896dup AASS(NM_005763.3):c.1407-13_1407-7dupTTTTTTT - AASS_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1678C>T r.(?) p.(Pro560Ser) Both (homozygous) - pathogenic g.121733190G>A g.122093136G>A - - AASS_000001 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
-?/. - c.1678C>T r.(?) p.(Pro560Ser) Parent #1 - likely benign g.121733190G>A g.122093136G>A - - AASS_000001 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs74882337 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/. - c.1774G>T r.(?) p.(Asp592Tyr) Unknown - VUS g.121732998C>A g.122092944C>A AASS(NM_005763.3):c.1774G>T (p.D592Y) - AASS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2276C>T r.(?) p.(Thr759Ile) Unknown - VUS g.121721558G>A g.122081504G>A - - AASS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2729G>A r.(?) p.(Arg910Gln) Unknown - likely benign g.121716595C>T g.122076541C>T AASS(NM_005763.3):c.2729G>A (p.R910Q) - AASS_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2769A>G r.(?) p.(Thr923=) Unknown - likely benign g.121716555T>C g.122076501T>C AASS(NM_005763.3):c.2769A>G (p.T923=) - AASS_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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