Full data view for gene TFRC

Information The variants shown are described using the NM_001128148.1 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.433A>G r.(?) p.(Lys145Glu) Unknown - VUS g.195800802T>C g.196073931T>C TFRC(NM_003234.3):c.433A>G (p.K145E) - TFRC_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.445G>A r.(?) p.(Glu149Lys) Unknown - VUS g.195799013C>T - - - TFRC_000021 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.456T>C r.(?) p.(Tyr152=) Unknown - likely benign g.195799002A>G - TFRC(NM_003234.4):c.456T>C (p.Y152=) - TFRC_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.501G>T r.(?) p.(Leu167Phe) Unknown - likely benign g.195798957C>A g.196072086C>A TFRC(NM_001128148.1):c.501G>T (p.(Leu167Phe)) - TFRC_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.634C>G r.(?) p.(Leu212Val) Unknown - likely benign g.195798320G>C - TFRC(NM_003234.4):c.634C>G (p.L212V) - TFRC_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.688G>A r.(?) p.(Gly230Ser) Unknown - VUS g.195796439C>T - - - TFRC_000020 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.713G>A r.(?) p.(Gly238Asp) Unknown - VUS g.195796414C>T g.196069543C>T - - TFRC_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.801+19A>G r.(=) p.(=) Unknown - likely benign g.195796307T>C g.196069436T>C TFRC(NM_003234.4):c.801+19A>G - TFRC_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.802-12G>T r.(=) p.(=) Unknown - benign g.195795013C>A - TFRC(NM_003234.4):c.802-12G>T - TFRC_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.814G>A r.(?) p.(Glu272Lys) Unknown - likely benign g.195794989C>T g.196068118C>T TFRC(NM_003234.3):c.814G>A (p.E272K) - TFRC_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.901-17C>T r.(=) p.(=) Unknown - likely benign g.195794545G>A - TFRC(NM_003234.4):c.901-17C>T - TFRC_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.941C>T r.(?) p.(Pro314Leu) Unknown - VUS g.195794488G>A g.196067617G>A - - TFRC_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.977C>T r.(?) p.(Ser326Leu) Unknown - VUS g.195794452G>A - TFRC(NM_003234.3):c.977C>T (p.S326L) - TFRC_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1009A>G r.(?) p.(Ile337Val) Unknown - VUS g.195794420T>C - - - TFRC_000019 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1009A>G r.(?) p.(Ile337Val) Unknown - VUS g.195794420T>C - - - TFRC_000019 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1009A>G r.(?) p.(Ile337Val) Unknown - VUS g.195794420T>C - - - TFRC_000019 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1009A>G r.(?) p.(Ile337Val) Unknown - VUS g.195794420T>C - - - TFRC_000019 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1009A>G r.(?) p.(Ile337Val) Unknown - VUS g.195794420T>C - - - TFRC_000019 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.1038T>C r.(?) p.(Phe346=) Unknown - likely benign g.195794391A>G g.196067520A>G TFRC(NM_003234.3):c.1038T>C (p.F346=), TFRC(NM_003234.4):c.1038T>C (p.F346=) - TFRC_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1038T>C r.(?) p.(Phe346=) Unknown - likely benign g.195794391A>G g.196067520A>G TFRC(NM_003234.3):c.1038T>C (p.F346=), TFRC(NM_003234.4):c.1038T>C (p.F346=) - TFRC_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1198+18C>A r.(=) p.(=) Unknown - likely benign g.195792296G>T - TFRC(NM_003234.4):c.1198+18C>A - TFRC_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1198+19C>G r.(=) p.(=) Unknown - likely benign g.195792295G>C g.196065424G>C TFRC(NM_003234.4):c.1198+19C>G - TFRC_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1199-4A>T r.spl? p.? Unknown - likely benign g.195791303T>A - TFRC(NM_003234.3):c.1199-4A>T - TFRC_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1219G>A r.(?) p.(Ala407Thr) Unknown - VUS g.195791279C>T - TFRC(NM_003234.3):c.1219G>A (p.A407T) - TFRC_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1281G>T r.(?) p.(Leu427Phe) Unknown - VUS g.195791217C>A - TFRC(NM_001128148.3):c.1281G>T (p.(Leu427Phe)) - chr3_007749 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1406G>A r.(?) p.(Gly469Glu) Unknown - VUS g.195789515C>T g.196062644C>T TFRC(NM_001128148.3):c.1406G>A (p.(Gly469Glu)), TFRC(NM_003234.3):c.1406G>A (p.G469E) - TFRC_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1406G>A r.(?) p.(Gly469Glu) Unknown - VUS g.195789515C>T - TFRC(NM_001128148.3):c.1406G>A (p.(Gly469Glu)), TFRC(NM_003234.3):c.1406G>A (p.G469E) - TFRC_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1432G>A r.(?) p.(Ala478Thr) Unknown - VUS g.195789489C>T g.196062618C>T TFRC(NM_003234.4):c.1432G>A (p.A478T) - TFRC_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1461G>A r.(?) p.(Ala487=) Unknown - likely benign g.195789460C>T g.196062589C>T TFRC(NM_003234.3):c.1461G>A (p.A487=) - TFRC_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1485G>A r.(?) p.(Lys495=) Unknown - likely benign g.195787102C>T g.196060231C>T TFRC(NM_003234.3):c.1485G>A (p.K495=) - TFRC_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1596-20C>T r.(=) p.(=) Unknown - likely benign g.195785256G>A - TFRC(NM_003234.4):c.1596-20C>T - TFRC_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1621G>A r.(?) p.(Ala541Thr) Unknown - VUS g.195785211C>T g.196058340C>T TFRC(NM_003234.4):c.1621G>A (p.A541T) - TFRC_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1677+12C>T r.(=) p.(=) Unknown - likely benign g.195785143G>A - TFRC(NM_003234.4):c.1677+12C>T - TFRC_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1690C>T r.(?) p.(Pro564Ser) Unknown - VUS g.195782160G>A - - - TFRC_000018 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1690C>T r.(?) p.(Pro564Ser) Unknown - VUS g.195782160G>A - - - TFRC_000018 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.1813G>A r.(?) p.(Val605Ile) Unknown - likely benign g.195782037C>T - TFRC(NM_003234.4):c.1813G>A (p.V605I) - TFRC_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2027A>G r.(?) p.(Asp676Gly) Unknown - VUS g.195780302T>C - TFRC(NM_001128148.3):c.2027A>G (p.(Asp676Gly)) - TFRC_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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