All variants in the EIF2B4 gene

Information The variants shown are described using the NM_001034116.1 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
Legend   How to query  

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.-4407A>G r.(?) p.(=) - VUS g.27597588T>C g.27374721T>C SNX17(NM_001267059.1):c.608T>C (p.(Met203Thr)) - SNX17_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.20C>T r.(?) p.(Ala7Val) - likely benign g.27593162G>A g.27370295G>A EIF2B4(NM_001034116.1):c.20C>T (p.A7V) - EIF2B4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.27C>T r.(?) p.(Arg9=) - benign g.27593155G>A g.27370288G>A EIF2B4(NM_001034116.1):c.27C>T (p.R9=) - EIF2B4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.63C>T r.(?) p.(Pro21=) - likely benign g.27592755G>A - EIF2B4(NM_001318966.1):c.18C>T (p.P6=) - EIF2B4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.74G>T r.(?) p.(Gly25Val) - VUS g.27592744C>A g.27369877C>A EIF2B4(NM_001034116.2):c.74G>T (p.(Gly25Val)), EIF2B4(NM_001318966.1):c.29G>T (p.G10V) - EIF2B4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.74G>T r.(?) p.(Gly25Val) - VUS g.27592744C>A - EIF2B4(NM_001034116.2):c.74G>T (p.(Gly25Val)), EIF2B4(NM_001318966.1):c.29G>T (p.G10V) - EIF2B4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.76-7G>A r.(=) p.(=) - benign g.27592423C>T g.27369556C>T EIF2B4(NM_001034116.2):c.76-7G>A, EIF2B4(NM_001318966.2):c.31-7G>A - EIF2B4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.76-7G>A r.(=) p.(=) - benign g.27592423C>T - EIF2B4(NM_001034116.2):c.76-7G>A, EIF2B4(NM_001318966.2):c.31-7G>A - EIF2B4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.196G>A r.(?) p.(Ala66Thr) - likely benign g.27592296C>T - EIF2B4(NM_001318966.1):c.151G>A (p.A51T) - EIF2B4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.212-12del r.(=) p.(=) - benign g.27592101del - EIF2B4(NM_001318966.2):c.167-12delT - EIF2B4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.212-12dup r.(=) p.(=) - benign g.27592101dup - EIF2B4(NM_001318966.2):c.167-12dupT - EIF2B4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.372A>G r.(?) p.(Gly124=) - likely benign g.27591919T>C - EIF2B4(NM_001318966.1):c.327A>G (p.G109=) - EIF2B4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.428G>A r.(?) p.(Arg143His) - likely benign g.27591591C>T g.27368724C>T EIF2B4(NM_001034116.1):c.428G>A (p.R143H, p.(Arg143His)) - EIF2B4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.428G>A r.(?) p.(Arg143His) - likely benign g.27591591C>T - EIF2B4(NM_001034116.1):c.428G>A (p.R143H, p.(Arg143His)) - EIF2B4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.496C>G r.(?) p.(Gln166Glu) - VUS g.27591523G>C - EIF2B4(NM_001034116.2):c.496C>G (p.(Gln166Glu)) - EIF2B4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.626G>A r.(?) p.(Arg209Gln) - pathogenic g.27590971C>T g.27368104C>T - - EIF2B4_000003 submitted through SIB; ExPASy_068455 PubMed: Ohlenbusch et al (2005) - - Germline - - - - - SIB - Livia Famiglietti
+/. - c.683C>T r.(?) p.(Ala228Val) - pathogenic g.27590914G>A g.27368047G>A - - EIF2B4_000004 submitted through SIB; ExPASy_015405 PubMed: van der Knaap et al (2002) - - Germline - - - - - SIB - Livia Famiglietti
-/. - c.729G>A r.(?) p.(=) - benign g.27590666C>T - EIF2B4(NM_001034116.2):c.729G>A (p.(Pro243=)) - EIF2B4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.806T>G r.(?) p.(Leu269Arg) - pathogenic g.27590403A>C g.27367536A>C - - EIF2B4_000001 submitted through SIB; ExPASy_068456 PubMed: Ohlenbusch et al (2005) - - Germline - - - - - SIB - Livia Famiglietti
-?/. - c.885+8G>C r.(=) p.(=) - likely benign g.27590316C>G g.27367449C>G EIF2B4(NM_001318966.1):c.840+8G>C - EIF2B4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/- - c.916C>G r.(?) p.(Arg306Gly) - benign g.27590038G>C g.27367171G>C - - EIF2B4_000008 submitted through SIB; ExPASy_015406; Corresponds to rs78599355 in dbSNP PubMed: van der Knaap et al (2002) - - Germline - - - - - SIB - Livia Famiglietti
-?/. - c.916C>G r.(?) p.(Arg306Gly) - likely benign g.27590038G>C - EIF2B4(NM_001034116.2):c.916C>G (p.(Arg306Gly)) - EIF2B4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1013+8C>T r.(=) p.(=) - likely benign g.27589933G>A g.27367066G>A EIF2B4(NM_001318966.1):c.968+8C>T - EIF2B4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1014-7A>G r.(=) p.(=) - benign g.27589810T>C g.27366943T>C EIF2B4(NM_001034116.2):c.1014-7A>G, EIF2B4(NM_001318966.2):c.969-7A>G - EIF2B4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1014-7A>G r.(=) p.(=) - benign g.27589810T>C - EIF2B4(NM_001034116.2):c.1014-7A>G, EIF2B4(NM_001318966.2):c.969-7A>G - EIF2B4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.1018T>C r.(?) p.(Ser340Pro) - VUS g.27589799A>G - EIF2B4(NM_001034116.2):c.1018T>C (p.(Ser340Pro)) - EIF2B4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1070G>A r.(?) p.(Arg357Gln) - pathogenic g.27589747C>T g.27366880C>T - - EIF2B4_000005 submitted through SIB; ExPASy_015407 PubMed: van der Knaap et al (2002) - - Germline - - - - - SIB - Livia Famiglietti
+/. - c.1120C>T r.(?) p.(Arg374Cys) - pathogenic g.27589697G>A g.27366830G>A - - EIF2B4_000002 submitted through SIB; ExPASy_015408 PubMed: Ohlenbusch et al (2005) - - Germline - - - - - SIB - Livia Famiglietti
+/. - c.1120C>T r.(?) p.(Arg374Cys) - pathogenic g.27589697G>A g.27366830G>A - - EIF2B4_000002 submitted through SIB; ExPASy_015408 PubMed: van der Knaap et al (2002) - - Germline - - - - - SIB - Livia Famiglietti
?/. - c.1129G>C r.(?) p.(Val377Leu) - VUS g.27589688C>G - EIF2B4(NM_001034116.2):c.1129G>C (p.(Val377Leu)) - EIF2B4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1132C>T r.(?) p.(His378Tyr) - pathogenic g.27589685G>A g.27366818G>A - - EIF2B4_000024 - - - - Germline - - - - - Muhammad Umair
-/. - c.1233C>T r.(=) p.(=) - benign g.27587724G>A g.27364857G>A - - EIF2B4_000021 25 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1058065 Germline - 25/2795 individuals - - - Mohammed Faruq
-/. - c.1233C>T r.(?) p.(=) - benign g.27587724G>A - EIF2B4(NM_001034116.2):c.1233C>T (p.(Asn411=)), EIF2B4(NM_001318966.2):c.1188C>T (p.N396=) - EIF2B4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1233C>T r.(?) p.(=) - likely benign g.27587724G>A - EIF2B4(NM_001034116.2):c.1233C>T (p.(Asn411=)), EIF2B4(NM_001318966.2):c.1188C>T (p.N396=) - EIF2B4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1234G>A r.(?) p.(Gly412Arg) - VUS g.27587723C>T g.27364856C>T EIF2B4(NM_001034116.1):c.1234G>A (p.(Gly412Arg)) - EIF2B4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.1352C>G r.(?) p.(Ala451Gly) - likely pathogenic g.27587605G>C - EIF2B4(NM_001318966.2):c.1307C>G (p.A436G) - EIF2B4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1392A>G r.(?) p.(Gln464=) - likely benign g.27587447T>C g.27364580T>C EIF2B4(NM_001318966.1):c.1347A>G (p.Q449=) - EIF2B4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1393T>C r.(?) p.(Cys465Arg) - pathogenic g.27587446A>G g.27364579A>G - - EIF2B4_000006 submitted through SIB; ExPASy_016843 PubMed: Fogli et al (2003) - - Germline - - - - - SIB - Livia Famiglietti
+/. - c.1465T>C r.(?) p.(Tyr489His) - pathogenic g.27587374A>G g.27364507A>G - - EIF2B4_000007 submitted through SIB; ExPASy_016844 PubMed: Fogli et al (2003) - - Germline - - - - - SIB - Livia Famiglietti
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.