Unique variants in the STAT2 gene

Information The variants shown are described using the NM_005419.3 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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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.-2682G>C r.(?) p.(=) - likely benign g.56756516C>G g.56362732C>G APOF(NM_001638.2):c.14G>C (p.(Cys5Ser)) - APOF_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-1623C>G r.(?) p.(=) - likely benign g.56755457G>C g.56361673G>C APOF(NM_001638.2):c.533C>G (p.(Ala178Gly)) - APOF_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.250C>A r.(?) p.(Gln84Lys) - likely benign g.56749951G>T g.56356167G>T STAT2(NM_005419.3):c.250C>A (p.(Gln84Lys)) - APOF_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.285+5T>C r.spl? p.? - likely benign g.56749911A>G - STAT2(NM_005419.3):c.285+5T>C - APOF_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.526C>T r.(?) p.(Arg176Ter) - VUS g.56749081G>A g.56355297G>A STAT2(NM_005419.4):c.526C>T (p.R176*) - STAT2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.759C>T r.(?) p.(His253=) - likely benign g.56748273G>A g.56354489G>A STAT2(NM_005419.3):c.759C>T (p.H253=) - STAT2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.782+1G>A r.spl? p.? - VUS g.56748249C>T g.56354465C>T - - STAT2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1024G>A r.(?) p.(Val342Ile) - VUS g.56744892C>T - - - STAT2_000012 - Liu submitted, 2021 - - Germline - - - - - Liu Wenbing
?/. 1 - c.1114G>A r.(?) p.(Gly372Ser) - VUS g.56744197C>T g.56350413C>T STAT2(NM_005419.4):c.1114G>A (p.G372S) - STAT2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1343C>T r.(?) p.(Thr448Met) - benign g.56743044G>A g.56349260G>A - - STAT2_000010 9 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2066815 Germline - 9/2795 individuals - - - Mohammed Faruq
-?/. 1 - c.1344G>A r.(?) p.(Thr448=) - likely benign g.56743043C>T g.56349259C>T STAT2(NM_005419.4):c.1344G>A (p.T448=) - STAT2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1466C>T r.(?) p.(Pro489Leu) - likely benign g.56742818G>A g.56349034G>A STAT2(NM_005419.3):c.1466C>T (p.(Pro489Leu)) - STAT2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 4 - c.1782G>C r.(?) p.(Met594Ile) - benign g.56740682C>G g.56346898C>G STAT2(NM_005419.3):c.1782G>C (p.(Met594Ile), p.M594I) - STAT2_000002 170 heterozygous; Clinindb (India), 3 homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs2066807 CLASSIFICATION record, Germline - 170/2795 individuals, 3/2795 individuals - - - VKGL-NL_Leiden, VKGL-NL_Utrecht, Mohammed Faruq
-?/. 1 - c.1815G>A r.(?) p.(Ser605=) - likely benign g.56740649C>T g.56346865C>T STAT2(NM_198332.1):c.1803G>A (p.S601=) - STAT2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1919C>T r.(?) p.(Pro640Leu) - VUS g.56740351G>A - STAT2(NM_198332.1):c.1907C>T (p.P636L) - STAT2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2473G>T r.(?) p.(Gly825Cys) - benign g.56737256C>A g.56343472C>A STAT2(NM_005419.3):c.2473G>T (p.G825C) - STAT2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.2478G>T r.(?) p.(Gln826His) - benign g.56737251C>A g.56343467C>A STAT2(NM_005419.3):c.2478G>T (p.Q826H) - IL23A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.*3944T>C r.(=) p.(=) - likely benign g.56733229A>G g.56339445A>G IL23A(NM_016584.2):c.182A>G (p.(Asp61Gly)) - IL23A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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