Unique variants in the HIP1 gene

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     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. 1 - c.327C>A r.(?) p.(Asn109Lys) - VUS g.75221690G>T g.75592372G>T HIP1(NM_001243198.1):c.327C>A (p.?) - HIP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.602C>T r.(?) p.(Thr201Ile) - 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 - - - - - VKGL-NL_Leiden
-/. 1 - c.2158+9T>C r.(=) p.(=) - benign g.75183403A>G g.75554104A>G HIP1(NM_005338.7):c.2158+9T>C - HIP1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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