All variants in the KLF1 gene

Information The variants shown are described using the NM_006563.3 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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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.-5029T>C r.(?) p.(=) - VUS g.13002983A>G - GCDH(NM_000159.3):c.325A>G (p.T109A) - GCDH_000269 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-5004C>A r.(?) p.(=) - likely benign g.13002958G>T g.12892144G>T GCDH(NM_000159.3):c.300G>T (p.M100I) - KLF1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-4837C>T r.(?) p.(=) - likely benign g.13002791G>A g.12891977G>A GCDH(NM_000159.3):c.271+3G>A, GCDH(NM_000159.4):c.271+3G>A - GCDH_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-4837C>T r.(?) p.(=) - benign g.13002791G>A g.12891977G>A GCDH(NM_000159.3):c.271+3G>A, GCDH(NM_000159.4):c.271+3G>A - GCDH_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.-4402G>A r.(?) p.(=) - likely benign g.13002356C>T g.12891542C>T GCDH(NM_000159.4):c.127+20C>T - GCDH_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.115A>C r.(?) p.(Met39Leu) - likely benign g.12996929T>G - KLF1(NM_006563.3):c.115A>C (p.(Met39Leu)) - DNASE2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.304T>C r.(?) p.(Ser102Pro) - benign g.12996740A>G g.12885926A>G KLF1(NM_006563.5):c.304T>C (p.S102P) - DNASE2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.304T>C r.(?) p.(Ser102Pro) - benign g.12996740A>G - KLF1(NM_006563.5):c.304T>C (p.S102P) - DNASE2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.325C>T r.(?) p.(Pro109Ser) - benign g.12996719G>A g.12885905G>A KLF1(NM_006563.3):c.325C>T (p.(Pro109Ser)) - DNASE2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.544T>C r.(?) p.(Phe182Leu) - likely benign g.12996500A>G g.12885686A>G KLF1(NM_006563.3):c.544T>C (p.(Phe182Leu)) - DNASE2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*3536G>C r.(=) p.(=) - likely benign g.12992163C>G - DNASE2(NM_001375.3):c.27G>C (p.L9=) - DNASE2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*3749C>G r.(=) p.(=) - VUS g.12991950G>C - DNASE2(NM_001375.3):c.103C>G (p.L35V) - DNASE2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*3780C>G r.(=) p.(=) - likely benign g.12991919G>C - DNASE2(NM_001375.3):c.134C>G (p.A45G) - DNASE2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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