Full data view for gene CAMLG

Information The variants shown are described using the NM_001745.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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.-10245787_*11630645dup - - Unknown - pathogenic g.123828524_145717285dup - - - SIL1_000024 mosaicism, copy number 3 in 0.38 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+/. - c.633+4A>G r.173_633del p.Glu58ValfsTer80 Both (homozygous) - likely pathogenic (recessive) g.134077217A>G g.134741527A>G - - CAMLG_000001 - PubMed: Wilson 2022 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WGS CDG patient PubMed: Wilson 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents (fourth degree cousins) M yes Turkey - - - - - 1 Johan den Dunnen
?/. - c.678A>C r.(?) p.(=) Unknown - VUS g.134079721A>C - CAMLG(NM_001745.4):c.678A>C (p.(Gly226=)) - CAMLG_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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