Unique variants in the HESX1 gene

Information The variants shown are described using the NM_003865.2 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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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.-7C>G r.(?) p.(=) - likely benign g.57233953G>C g.57199925G>C HESX1(NM_003865.2):c.-7C>G - HESX1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.18G>C r.(?) p.(Gln6His) - pathogenic g.57233929C>G g.57199901C>G HESX1(NM_003865.2):c.18G>C (p.(Gln6His)) - HESX1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.124C>T r.(?) p.(His42Tyr) - likely benign g.57233823G>A g.57199795G>A - - HESX1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.200G>C r.(?) p.(Ser67Thr) - VUS g.57232938C>G g.57198910C>G HESX1(NM_003865.2):c.200G>C (p.S67T) - HESX1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.254C>T r.(?) p.(Ser85Leu) - likely benign g.57232884G>A g.57198856G>A HESX1(NM_003865.2):c.254C>T (p.(Ser85Leu)) - HESX1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.325C>G r.(?) p.(Arg109Gly) - VUS g.57232813G>C g.57198785G>C - - HESX1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/., ?/. 11 - c.374A>G r.(?) p.(Asn125Ser) - benign, likely benign, VUS g.57232504T>C g.57198476T>C HESX1(NM_003865.2):c.374A>G (p.N125S, p.(Asn125Ser)), HESX1(NM_003865.3):c.374A>G (p.N125S) - HESX1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Gerard C.P. Schaafsma, VKGL-NL_Leiden, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 2 - c.385G>A r.(?) p.(Val129Ile) - likely benign g.57232493C>T g.57198465C>T HESX1(NM_003865.2):c.385G>A (p.V129I, p.(Val129Ile)) - HESX1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
+?/. 1 - c.434T>A r.(?) p.(Leu145Ter) - likely pathogenic g.57232444A>T - HESX1(NM_003865.2):c.434T>A (p.L145*) - HESX1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.450C>G r.(?) p.(Asp150Glu) - likely pathogenic g.57232428G>C g.57198400G>C HESX1 c.450C>G p.(Asp150Glu) - HESX1_000014 heterozygous PubMed: Méjécase 2020 - - Unknown ? - - - - LOVD
+/., +?/. 2 - c.478C>T r.(?) p.(Arg160Cys) - likely pathogenic, pathogenic g.57232305G>A g.57198277G>A HESX1(NM_003865.3):c.478C>T (p.R160C) - HESX1_000004 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs28936702 CLASSIFICATION record, Germline - 1/2795 individuals - - - VKGL-NL_Utrecht, Mohammed Faruq
-/., -?/. 2 - c.525G>A r.(?) p.(Ala175=) - benign, likely benign g.57232258C>T g.57198230C>T HESX1(NM_003865.2):c.525G>A (p.A175=, p.(=)) - HESX1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
-?/. 1 - c.539A>G r.(?) p.(Asn180Ser) - likely benign g.57232244T>C g.57198216T>C HESX1(NM_003865.3):c.539A>G (p.N180S) - HESX1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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