All variants in the PSPH gene

Information The variants shown are described using the NM_004577.3 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
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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.-19-8dup r.(=) p.(=) - likely benign g.56088937dup g.56021244dup PSPH(NM_004577.3):c.-19-8dup (p.(=)) - PSPH_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-19-7_-19-4delinsTCTTA r.spl? p.? - likely benign g.56088928_56088931delinsTAAGA - PSPH(NM_004577.4):c.-19-7_-19-4delinsTCTTA - PSPH_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-19-4G>A r.spl? p.? - likely benign g.56088928C>T g.56021235C>T PSPH(NM_004577.3):c.-19-4G>A (p.(=)) - PSPH_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-3G>A r.(?) p.(=) - likely benign g.56088908C>T g.56021215C>T PSPH(NM_004577.4):c.-3G>A - PSPH_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.-2C>G r.(?) p.(=) - likely benign g.56088907G>C g.56021214G>C PSPH(NM_004577.4):c.-2C>G - PSPH_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.4G>A r.(?) p.(Val2Ile) - likely benign g.56088902C>T g.56021209C>T PSPH(NM_004577.3):c.4G>A (p.(Val2Ile)), PSPH(NM_004577.4):c.4G>A (p.V2I) - PSPH_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.4G>A r.(?) p.(Val2Ile) - likely benign g.56088902C>T g.56021209C>T PSPH(NM_004577.3):c.4G>A (p.(Val2Ile)), PSPH(NM_004577.4):c.4G>A (p.V2I) - PSPH_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.72G>C r.(?) p.(Thr24=) - likely benign g.56088834C>G g.56021141C>G PSPH(NM_004577.4):c.72G>C (p.T24=) - PSPH_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.94G>A r.(?) p.(Asp32Asn) - likely pathogenic g.56088812C>T g.56021119C>T PSPH(NM_004577.4):c.94G>A (p.D32N) - PSPH_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.94G>A r.(?) p.(Asp32Asn) - pathogenic g.56088812C>T g.56021119C>T - - PSPH_000028 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs104894035 Germline - 1/2795 individuals - - - Mohammed Faruq
-/. - c.95A>G r.(?) p.(Asp32Gly) - benign g.56088811T>C g.56021118T>C PSPH(NM_004577.4):c.95A>G (p.(Asp32Gly), p.D32G) - PSPH_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.95A>G r.(?) p.(Asp32Gly) - likely benign g.56088811T>C - PSPH(NM_004577.4):c.95A>G (p.(Asp32Gly), p.D32G) - PSPH_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.115G>A r.(?) p.(Gly39Ser) - VUS g.56088791C>T - PSPH(NM_004577.4):c.115G>A (p.(Gly39Ser)) - PSPH_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.117C>T r.(?) p.(=) - likely benign g.56088789G>A - PSPH(NM_004577.4):c.117C>T (p.(Gly39=)) - PSPH_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.120T>A r.(?) p.(=) - likely benign g.56088786A>T - PSPH(NM_004577.4):c.120T>A (p.(Val40=)) - PSPH_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.126C>T r.(?) p.(Asp42=) - likely benign g.56088780G>A g.56021087G>A PSPH(NM_004577.4):c.126C>T (p.(Asp42=), p.D42=) - PSPH_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.126C>T r.(?) p.(Asp42=) - likely benign g.56088780G>A - PSPH(NM_004577.4):c.126C>T (p.(Asp42=), p.D42=) - PSPH_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.145C>T r.(?) p.(Arg49Trp) - benign g.56087423G>A g.56019730G>A PSPH(NM_004577.4):c.145C>T (p.R49W) - PSPH_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.159C>T r.(?) p.(Gly53=) - likely benign g.56087409G>A g.56019716G>A PSPH(NM_004577.4):c.159C>T (p.G53=) - PSPH_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.169C>T r.(?) p.(Pro57Ser) - benign g.56087399G>A g.56019706G>A PSPH(NM_004577.3):c.169C>T (p.(Pro57Ser)), PSPH(NM_004577.4):c.169C>T (p.P57S) - PSPH_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.169C>T r.(?) p.(Pro57Ser) - likely benign g.56087399G>A g.56019706G>A PSPH(NM_004577.3):c.169C>T (p.(Pro57Ser)), PSPH(NM_004577.4):c.169C>T (p.P57S) - PSPH_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.185T>C r.(?) p.(Leu62Pro) - pathogenic g.56087383A>G g.56019690A>G PSPH(NM_004577.4):c.185T>C (p.L62P) - PSPH_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.189A>G r.(?) p.(Thr63=) - likely benign g.56087379T>C g.56019686T>C PSPH(NM_004577.4):c.189A>G (p.T63=) - PSPH_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.194G>A r.(?) p.(Arg65His) - likely benign g.56087374C>T g.56019681C>T PSPH(NM_004577.3):c.194G>A (p.(Arg65His)), PSPH(NM_004577.4):c.194G>A (p.R65H) - PSPH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.194G>A r.(?) p.(Arg65His) - likely benign g.56087374C>T g.56019681C>T PSPH(NM_004577.3):c.194G>A (p.(Arg65His)), PSPH(NM_004577.4):c.194G>A (p.R65H) - PSPH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.203T>C r.(?) p.(Leu68Pro) - benign g.56087365A>G g.56019672A>G PSPH(NM_004577.3):c.203T>C (p.(Leu68Pro)), PSPH(NM_004577.4):c.203T>C (p.L68P) - PSPH_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.203T>C r.(?) p.(Leu68Pro) - likely benign g.56087365A>G g.56019672A>G PSPH(NM_004577.3):c.203T>C (p.(Leu68Pro)), PSPH(NM_004577.4):c.203T>C (p.L68P) - PSPH_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.204C>A r.(?) p.(Leu68=) - likely benign g.56087364G>T g.56019671G>T PSPH(NM_004577.4):c.204C>A (p.L68=) - PSPH_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.249A>C r.(?) p.(Gln83His) - likely benign g.56087319T>G g.56019626T>G PSPH(NM_004577.3):c.249A>C (p.(Gln83His)), PSPH(NM_004577.4):c.249A>C (p.Q83H) - PSPH_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.249A>C r.(?) p.(Gln83His) - likely benign g.56087319T>G g.56019626T>G PSPH(NM_004577.3):c.249A>C (p.(Gln83His)), PSPH(NM_004577.4):c.249A>C (p.Q83H) - PSPH_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.268G>A r.(?) p.(Gly90Ser) - likely benign g.56087300C>T g.56019607C>T PSPH(NM_004577.3):c.268G>A (p.(Gly90Ser)), PSPH(NM_004577.4):c.268G>A (p.G90S) - PSPH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.268G>A r.(?) p.(Gly90Ser) - likely benign g.56087300C>T g.56019607C>T PSPH(NM_004577.3):c.268G>A (p.(Gly90Ser)), PSPH(NM_004577.4):c.268G>A (p.G90S) - PSPH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.268G>A r.(?) p.(Gly90Ser) - likely benign g.56087300C>T - PSPH(NM_004577.3):c.268G>A (p.(Gly90Ser)), PSPH(NM_004577.4):c.268G>A (p.G90S) - PSPH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.275+1del r.spl? p.? - benign g.56087293del g.56019600del PSPH(NM_004577.3):c.275+1delG (p.?), PSPH(NM_004577.4):c.275+1delG - PSPH_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.275+1del r.spl? p.? - likely benign g.56087293del g.56019600del PSPH(NM_004577.3):c.275+1delG (p.?), PSPH(NM_004577.4):c.275+1delG - PSPH_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.275+10A>G r.(=) p.(=) - likely benign g.56087283T>C g.56019590T>C PSPH(NM_004577.4):c.275+10A>G - PSPH_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.275+13C>G r.(=) p.(=) - likely benign g.56087280G>C g.56019587G>C PSPH(NM_004577.4):c.275+13C>G - PSPH_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.275+15G>T r.(=) p.(=) - likely benign g.56087278C>A g.56019585C>A PSPH(NM_004577.4):c.275+15G>T - PSPH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.276-4G>T r.spl? p.? - likely benign g.56085076C>A g.56017383C>A PSPH(NM_004577.3):c.276-4G>T (p.?) - PSPH_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.302G>A r.(?) p.(Arg101Gln) - VUS g.56085046C>T g.56017353C>T PSPH(NM_004577.4):c.302G>A (p.R101Q) - PSPH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.349G>A r.(?) p.(Glu117Lys) - VUS g.56084999C>T - PSPH(NM_004577.3):c.349G>A (p.(Glu117Lys)) - PSPH_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.384C>A r.(?) p.(Thr128=) - VUS g.56084964G>T g.56017271G>T PSPH(NM_004577.4):c.384C>A (p.T128=) - PSPH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.448C>T r.(?) p.(Gln150*) - likely pathogenic g.56082838G>A - PSPH(NM_004577.3):c.448C>T (p.(Gln150*)) - PSPH_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.455C>T r.(?) p.(Thr152Ile) - VUS g.56082831G>A g.56015138G>A PSPH(NM_004577.4):c.455C>T (p.(Thr152Ile)) - PSPH_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.455C>T r.(?) p.(Thr152Ile) - VUS g.56082831G>A g.56015138G>A - - PSPH_000024 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs147304638 Germline - 1/2795 individuals - - - Mohammed Faruq
?/. - c.596A>T r.(?) p.(Asn199Ile) - VUS g.56079537T>A - PSPH(NM_004577.4):c.596A>T (p.(Asn199Ile)) - PSPH_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.650T>C r.(?) p.(Val217Ala) - likely benign g.56079483A>G g.56011790A>G PSPH(NM_004577.4):c.650T>C (p.V217A) - PSPH_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.670G>C r.(?) p.(Glu224Gln) - likely benign g.56079463C>G g.56011770C>G PSPH(NM_004577.3):c.670G>C (p.(Glu224Gln)) - PSPH_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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