All variants in the PIP5K1C gene

Information The variants shown are described using the NM_012398.2 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

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     
-?/. - c.303C>T r.(?) p.(Asp101=) - likely benign g.3661916G>A g.3661918G>A PIP5K1C(NM_012398.2):c.303C>T (p.D101=) - PIP5K1C_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.468+20C>T r.(=) p.(=) - benign g.3660944G>A g.3660946G>A PIP5K1C(NM_012398.2):c.468+20C>T - PIP5K1C_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.684G>A r.(?) p.(Ser228=) - benign g.3653525C>T g.3653527C>T PIP5K1C(NM_012398.2):c.684G>A (p.S228=) - PIP5K1C_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
./. - c.902C>T r.(?) p.(Thr301Met) - likely pathogenic g.3653307G>A g.3653309G>A NM_001300849.1(PIP5K1C):c.902C>T p.(Thr301Met) - PIP5K1C_000003 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - Marjolijn JL Ligtenberg
?/. - c.1058T>C r.(?) p.(Leu353Pro) - VUS g.3651893A>G g.3651895A>G PIP5K1C(NM_001195733.1):c.1058T>C (p.(Leu353Pro)) - PIP5K1C_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. - c.1114G>A r.(?) p.(Glu372Lys) - likely pathogenic g.3651837C>T g.3651839C>T NM_001300849.1(PIP5K1C):c.1114G>A p.(Glu372Lys) - PIP5K1C_000002 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - Marjolijn JL Ligtenberg
-/. - c.1345+9C>T r.(=) p.(=) - benign g.3645963G>A g.3645965G>A PIP5K1C(NM_012398.2):c.1345+9C>T - PIP5K1C_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.1510+111C>T r.(=) p.(=) - VUS g.3643974G>A g.3643976G>A - - PIP5K1C_000001 - - - - Germline - - - - - Yu Sun
-?/. - c.1803G>A r.(?) p.(Pro601=) - likely benign g.3638999C>T g.3639001C>T PIP5K1C(NM_012398.2):c.1803G>A (p.P601=) - PIP5K1C_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1920+1290G>A r.(=) p.(=) - VUS g.3637592C>T g.3637594C>T PIP5K1C(NM_001300849.1):c.1940G>A (p.W647*) - PIP5K1C_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1920+1397G>A r.(=) p.(=) - likely benign g.3637485C>T g.3637487C>T PIP5K1C(NM_001300849.1):c.2047G>A (p.G683R) - PIP5K1C_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1975C>T r.(?) p.(Pro659Ser) - benign g.3633464G>A g.3633466G>A PIP5K1C(NM_012398.2):c.1975C>T (p.P659S) - PIP5K1C_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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