Full data view for gene SRPX2

Information The variants shown are described using the NM_014467.2 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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.980A>G r.(?) p.(Asn327Ser) Unknown - likely benign g.99922289A>G g.100667292A>G Asn327Ser - SRPX2_000018 - PubMed: Slavotinek 2015, Journal: Slavotinek 2015 - - Unknown - - - 0 - DNA SEQ, SEQ-NG - - ? - PubMed: Slavotinek 2015, Journal: Slavotinek 2015 patient, unaffected heterozygous carrier parents - ? United States - 00y07m 0 - - 1 Johan den Dunnen
-?/. - c.980A>G r.(?) p.(Asn327Ser) Unknown - likely benign g.99922289A>G g.100667292A>G SRPX2(NM_014467.2):c.980A>G (p.(Asn327Ser), p.N327S) - SRPX2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.980A>G r.(?) p.(Asn327Ser) Unknown - likely benign g.99922289A>G g.100667292A>G SRPX2(NM_014467.2):c.980A>G (p.(Asn327Ser), p.N327S) - SRPX2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.980A>G r.(?) p.(Asn327Ser) Unknown - likely benign g.99922289A>G g.100667292A>G SRPX2(NM_014467.2):c.980A>G (p.(Asn327Ser), p.N327S) - SRPX2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/-? - c.980A>G r.(?) p.(Asn327Ser) Unknown - pathogenic (!) g.99922289A>G g.100667292A>G - - SRPX2_000018 not in 554 control chromosomes; later publication questions pathogenicity, true variant in GRIN2A PubMed: Roll 2006 - - Germline yes - - 0 - DNA SEQ - - EE Fam10 PubMed: Roll 2006, PubMed: Lesca 2013 3-generation family, 11 affected (7F, 4M) F;M - France - - 0 - - 10 Johan den Dunnen
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