Full data view for gene ZFR2

Information The variants shown are described using the NM_015174.1 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.133G>A - r.(?) p.(Val45Met) Unknown g.3834902C>T - - - ZFR2_000001 - PubMed: Vadgama 2019, Journal: Vadgama 2019 - - Germline - - - 0 - DNA SEQ-NG Blood WES neuropathy, sensory, with spastic paraplegia, hereditary, autosomal recessive VF PubMed: Vadgama 2019, Journal: Vadgama 2019 - F no United Kingdom (Great Britain) - - 0 - - 1 Nirmal Vadgama
-?/. - c.2154T>G likely benign r.(?) p.(Ile718Met) Unknown g.3813906A>C - ZFR2(NM_015174.1):c.2154T>G (p.(Ile718Met)) - ZFR2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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