All variants in the PHF16 gene

Information The variants shown are described using the NM_014735.3 transcript reference sequence.

29 entries on 1 page. Showing entries 1 - 29.
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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.47-5C>T r.spl? p.? - likely benign g.46845109C>T g.46985708C>T JADE3(NM_001077445.2):c.47-5C>T (p.?) - PHF16_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.285-76G>A r.(=) p.(=) - VUS g.46884050G>A g.47024648G>A - - PHF16_000007 - - - - Germline - - - - - Yu Sun
?/. - c.285-76G>A r.(=) p.(=) - VUS g.46884050G>A g.47024648G>A - - PHF16_000007 - - - - Germline - - - - - Yu Sun
?/. - c.598G>C r.(?) p.(Asp200His) - VUS g.46887416G>C g.47028014G>C JADE3(NM_001077445.2):c.598G>C (p.(Asp200His)) - PHF16_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.855+59G>A r.(=) p.(=) - VUS g.46893249G>A g.47033847G>A - - PHF16_000010 - - - - Germline - - - - - Yu Sun
?/. - c.855+59G>A r.(=) p.(=) - VUS g.46893249G>A g.47033847G>A - - PHF16_000010 - - - - Germline - - - - - Yu Sun
?/. - c.973-66C>G r.(=) p.(=) - VUS g.46913494C>G g.47054092C>G - - PHF16_000001 - - - - Germline - - - - - Yu Sun
?/. - c.973-66C>G r.(=) p.(=) - VUS g.46913494C>G g.47054092C>G - - PHF16_000001 - - - - Germline - - - - - Yu Sun
?/. - c.1420C>A r.(?) p.(His474Asn) - VUS g.46914007C>A g.47054605C>A JADE3(NM_014735.5):c.1420C>A (p.H474N) - PHF16_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1427G>A r.(?) p.(Arg476His) - VUS g.46914014G>A - JADE3(NM_014735.5):c.1427G>A (p.R476H) - PHF16_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1531G>A r.(?) p.(Val511Ile) - VUS g.46915571G>A g.47056169G>A JADE3(NM_014735.5):c.1531G>A (p.V511I) - PHF16_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1645A>G r.(?) p.(Thr549Ala) - likely benign g.46917652A>G g.47058250A>G JADE3(NM_001077445.2):c.1645A>G (p.(Thr549Ala)), JADE3(NM_014735.5):c.1645A>G (p.T549A) - PHF16_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1645A>G r.(?) p.(Thr549Ala) - VUS g.46917652A>G g.47058250A>G JADE3(NM_001077445.2):c.1645A>G (p.(Thr549Ala)), JADE3(NM_014735.5):c.1645A>G (p.T549A) - PHF16_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. 11 c.2042A>G r.(?) p.(Asp681Gly) - VUS g.46918049A>G g.47058647A>G D681G - PHF16_000025 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.2220G>A r.(?) p.(Met740Ile) - likely benign g.46918227G>A g.47058825G>A JADE3(NM_001077445.2):c.2220G>A (p.(Met740Ile)) - PHF16_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. 11 c.2236T>C r.(?) p.(Phe746Leu) - VUS g.46918243T>C g.47058841T>C F746L - PHF16_000026 recurrent, found 4 times PubMed: Tarpey 2009 - - Germline - 4/208 cases - 0 - Lucy Raymond
-?/. - c.2236T>C r.(?) p.(Phe746Leu) - likely benign g.46918243T>C - JADE3(NM_001077445.2):c.2236T>C (p.(Phe746Leu)) - PHF16_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*437_*438insA r.(=) p.(=) - VUS g.46918916_46918917insA g.47059514dup - - PHF16_000002 - - - - Germline - - - - - Yu Sun
?/. - c.*437_*438insA r.(=) p.(=) - VUS g.46918916_46918917insA g.47059514dup - - PHF16_000002 - - - - Germline - - - - - Yu Sun
?/. - c.*478_*479insA r.(=) p.(=) - VUS g.46918957_46918958insA g.47059557dup - - PHF16_000024 - - - - Germline - - - - - Yu Sun
?/. - c.*497dup r.(=) p.(=) - VUS g.46918976dup g.47059575dup - - PHF16_000003 - - - - Germline - - - - - Yu Sun
?/. - c.*497dup r.(=) p.(=) - VUS g.46918976dup g.47059575dup - - PHF16_000023 - - - - Germline - - - - - Yu Sun
?/. - c.*497dup r.(=) p.(=) - VUS g.46918976dup g.47059575dup - - PHF16_000003 - - - - Germline - - - - - Yu Sun
?/. - c.*1172del r.(=) p.(=) - VUS g.46919651del g.47060253del - - PHF16_000021 - - - - Germline - - - - - Yu Sun
?/. - c.*1172del r.(=) p.(=) - VUS g.46919651del g.47060253del - - PHF16_000021 - - - - Germline - - - - - Yu Sun
?/. - c.*1178del r.(=) p.(=) - VUS g.46919657del - - - PHF16_000005 - - - - Germline - - - - - Yu Sun
?/. - c.*1178del r.(=) p.(=) - VUS g.46919657del - - - PHF16_000005 - - - - Germline - - - - - Yu Sun
?/. - c.*2120C>A r.(=) p.(=) - VUS g.46920599C>A g.47061200C>A - - PHF16_000006 - - - - Germline - - - - - Yu Sun
?/. - c.*2120C>A r.(=) p.(=) - VUS g.46920599C>A g.47061200C>A - - PHF16_000006 - - - - Germline - - - - - Yu Sun
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