Full data view for gene ASNS

Information The variants shown are described using the NM_133436.3 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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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.146G>A r.(?) p.(Arg49Gln) Unknown - VUS g.97498323C>T g.97869011C>T - - ASNS_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.512C>T r.(?) p.(Ala171Val) Unknown - likely benign g.97488686G>A g.97859374G>A ASNS(NM_133436.3):c.512C>T (p.A171V) - ASNS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.569T>G r.(?) p.(Leu190Ter) Unknown - pathogenic g.97488629A>C g.97859317A>C - - ASNS_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.629T>A r.(?) p.(Val210Glu) Unknown - benign g.97488569A>T g.97859257A>T ASNS(NM_183356.3):c.629T>A (p.V210E) - ASNS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.746C>T r.(?) p.(Thr249Ile) Unknown - likely pathogenic g.97488195G>A g.97858883G>A - - ASNS_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.753_755del r.(?) p.(Arg252del) Unknown - VUS g.97488188_97488190del g.97858876_97858878del - - ASNS_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.767T>C r.(?) p.(Leu256Pro) Unknown - VUS g.97488174A>G g.97858862A>G ASNS(NM_183356.3):c.767T>C (p.L256P) - ASNS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.775+19dup r.(=) p.(=) Unknown - benign g.97488153dup g.97858841dup ASNS(NM_183356.3):c.775+12_775+13insA - ASNS_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.776-13C>T r.(=) p.(=) Unknown - benign g.97487730G>A g.97858418G>A ASNS(NM_183356.3):c.776-13C>T - ASNS_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1002T>G r.(?) p.(Tyr334Ter) Unknown - pathogenic g.97486030A>C g.97856718A>C ASNS(NM_133436.3):c.1002T>G (p.Y334*) - ASNS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1018C>T r.(?) p.(Arg340Cys) Unknown - VUS g.97486014G>A g.97856702G>A ASNS(NM_001178075.1):c.955C>T (p.(Arg319Cys)) - ASNS_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1175G>A r.(?) p.(Arg392Lys) Unknown - VUS g.97483955C>T g.97854643C>T ASNS(NM_183356.3):c.1175G>A (p.R392K) - ASNS_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1193A>G r.(?) p.(Tyr398Cys) Both (homozygous) ACMG pathogenic g.97483937T>C g.97854625T>C - - ASNS_000001 - PubMed: Trujillano 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - ASNSD - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - 1 Daniel Trujillano
+/. - c.1193A>G r.(?) p.(Tyr398Cys) Both (homozygous) ACMG pathogenic g.97483937T>C g.97854625T>C - - ASNS_000001 - PubMed: Trujillano 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - ASNSD - PubMed: Trujillano 2017 no information from parents - - - - - 0 - - 1 Daniel Trujillano
+?/. - c.1193A>G r.(?) p.(Tyr398Cys) Unknown - likely pathogenic g.97483937T>C g.97854625T>C - - ASNS_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1193A>G r.(?) p.(Tyr398Cys) Both (homozygous) ACMG likely pathogenic g.97483937T>C g.97854625T>C NM_001178076.1:c.944A>G - ASNS_000001 ACMG PS4, PM2, PP1, PP3 PubMed: Anazi 2017 - - Germline - - - 0 - DNA SEQ-NG - WES ID 11DG1123 PubMed: Anazi 2017 familial M yes Saudi Arabia - - 0 - - 1 Johan den Dunnen
?/. - c.1211G>A r.(?) p.(Arg404His) Unknown - VUS g.97483919C>T g.97854607C>T - - ASNS_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1270C>T r.(?) p.(Arg424Ter) Unknown - VUS g.97482667G>A g.97853355G>A ASNS(NM_001352496.1):c.1270C>T (p.R424*) - ASNS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1364C>T r.(?) p.(Ser455Phe) Unknown - VUS g.97482484G>A g.97853172G>A ASNS(NM_133436.3):c.1364C>T (p.S455F) - ASNS_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1399A>G r.(?) p.(Lys467Glu) Unknown - VUS g.97482449T>C g.97853137T>C - - ASNS_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 12i c.1476+1G>A r.1321_1476del p.Asn441_Gln492del Both (homozygous) ACMG pathogenic (recessive) g.97482371C>T g.97853059C>T - - ASNS_000018 - - - - Germline yes - - 0 - RNA RT-PCR - - ASNSD - - - M - - - - 0 - - 2 Sandra Cooper
?/. - c.1478T>C r.(?) p.(Val493Ala) Unknown - VUS g.97481779A>G g.97852467A>G - - ASNS_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1556G>A r.(?) p.(Arg519His) Unknown - VUS g.97481701C>T g.97852389C>T - - ASNS_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1587G>A r.(?) p.(Arg529=) Unknown - likely benign g.97481670C>T - ASNS(NM_001352496.1):c.1587G>A (p.R529=) - ASNS_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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