Full data view for gene HIP1

Information The variants shown are described using the NM_005338.5 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.327C>A r.(?) p.(Asn109Lys) Unknown - VUS g.75221690G>T g.75592372G>T HIP1(NM_001243198.1):c.327C>A (p.?) - HIP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.602C>T r.(?) p.(Thr201Ile) Unknown - VUS g.75210555G>A g.75581239G>A HIP1(NM_001243198.1):c.602C>T (p.(Thr201Ile)) - HIP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2158+9T>C r.(=) p.(=) Unknown - benign g.75183403A>G g.75554104A>G HIP1(NM_005338.7):c.2158+9T>C - HIP1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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