Full data view for gene ANTXR2

Information The variants shown are described using the NM_058172.5 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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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     
+/. 1 c.116G>T r.(?) p.(Cys39Phe) Parent #1 - pathogenic (recessive) g.80993599C>A g.80072445C>A - - ANTXR2_000004 - PubMed: Deuquet 2011, PubMed: Yan 2013 - - Germline - - - - - DNA SEQ - - HFS 21328543-Fam1PatII1 PubMed: Deuquet 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Switzerland - - - - - 1 Shixu Yan
+/. - c.134T>C r.(?) p.(Leu45Pro) Both (homozygous) ACMG pathogenic g.80993581A>G g.80072427A>G - - ANTXR2_000011 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - HFS - PubMed: Trujillano 2017 no information from parents - - - - - - - - 1 Daniel Trujillano
+/. - c.134T>C r.(?) p.(Leu45Pro) Both (homozygous) - pathogenic (recessive) g.80993581A>G g.80072427A>G NM_058172.5:c.134T>C:p.(Leu45Pro) - ANTXR2_000011 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 11DG0848 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - 1 LOVD
+/. - c.134T>C r.(?) p.(Leu45Pro) Both (homozygous) - pathogenic (recessive) g.80993581A>G g.80072427A>G NM_058172.5:c.134T>C:p.(Leu45Pro) - ANTXR2_000011 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 12DG2105 PubMed: Maddirevula 2018 family M yes - Arab - - - - 1 LOVD
+?/. - c.207dup r.(?) p.(Ala70CysfsTer8) Unknown - likely pathogenic g.80992755dup g.80071601dup ANTXR2(NM_058172.5):c.207dup (p.(Ala70CysfsTer8)) - ANTXR2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.314G>A r.(?) p.(Gly105Asp) Both (homozygous) - pathogenic (recessive) g.80977150C>T g.80055996C>T G>A G105D - ANTXR2_000019 - PubMed: Dowling 2003 - - Germline - - - - - DNA SEQ - - HFS 12973667-FamJHF1 PubMed: Dowling 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - 1 Johan den Dunnen
-/. - c.378+8A>C r.(=) p.(=) Unknown - benign g.80977078T>G g.80055924T>G ANTXR2(NM_058172.6):c.378+8A>C - ANTXR2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.566T>C r.(?) p.(Ile189Thr) Parent #1 - pathogenic (recessive) g.80975496A>G g.80054342A>G - - ANTXR2_000006 - PubMed: Dowling 2003, PubMed: Yan 2013 - - Germline yes - - - - DNA SEQ - - HFS 12973667-FamISH2 PMID:Dowling 2003:12973667} 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M - Switzerland - - - - - 2 Shixu Yan
+/. - c.566T>C r.(?) p.(Ile189Thr) Parent #2 - pathogenic (recessive) g.80975496A>G g.80054342A>G 1094T>C - ANTXR2_000006 - PubMed: Hanks 2003, PubMed: Yan 2013 - - Germline - - - - - DNA SEQ - - HFS 14508707-FamL PubMed: Hanks 2003 2-generation family, 2 affected, unaffected heterozygous carrier parents - - Switzerland - - - - - 2 Shixu Yan
+/. - c.658G>T r.(?) p.(Glu220*) Both (homozygous) - pathogenic (recessive) g.80957165C>A g.80036011C>A G>T E220X - ANTXR2_000018 - PubMed: Dowling 2003 - - Germline - - - - - DNA SEQ - - HFS 12973667-FamISH1 PubMed: Dowling 2003 - F yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.720del r.(?) p.(Ser240Argfs*20) Both (homozygous) - likely pathogenic (recessive) g.80954702del g.80033548del NM_058172.5:c.720del:p.(Ser240Argfs*20) - ANTXR2_000027 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 17DG1004 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - 1 LOVD
-?/. - c.740G>C r.(?) p.(Gly247Ala) Unknown - likely benign g.80954682C>G - ANTXR2(NM_001145794.1):c.740G>C (p.(Gly247Ala)) - ANTXR2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.867_945del r.(?) p.(Glu289Aspfs*22) Both (homozygous) - pathogenic (recessive) g.80940052_80940130del g.80018898_80018976del NM_058172.5:c.867_945del79:p.(Glu289Aspfs*22) - ANTXR2_000026 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 10DG1878 PubMed: Maddirevula 2018 family F yes - Arab - - - - 1 LOVD
+/. 11 c.928G>T r.(?) p.(Val310Phe) Parent #1 - pathogenic (recessive) g.80940069C>A g.80018915C>A - - ANTXR2_000005 - PubMed: Deuquet 2011, PubMed: Yan 2013 - - Germline - - - - - DNA SEQ - - HFS 21328543-Fam2PatII2 PubMed: Deuquet 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Switzerland - - - - - 1 Shixu Yan
+/. - c.945T>G r.(?) p.(Cys315Trp) Both (homozygous) - pathogenic (recessive) g.80940052A>C g.80018898A>C - - ANTXR2_000016 - PubMed: Deuquet 2011 - - Germline - - - - - DNA SEQ - - HFS 21328543-Fam3PatII2 PubMed: Deuquet 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Switzerland - - - - - 1 Johan den Dunnen
+/. - c.989T>G r.(?) p.(Leu330Arg) Both (homozygous) - pathogenic (recessive) g.80929727A>C g.80008573A>C T>G L329R - ANTXR2_000017 - PubMed: Dowling 2003 - - Germline - - - - - DNA SEQ - - HFS 12973667-FamJHF2 PubMed: Dowling 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes United States African American - - - - 1 Johan den Dunnen
-/. - c.1069G>C r.(?) p.(Ala357Pro) Unknown - benign g.80905990C>G g.79984836C>G ANTXR2(NM_058172.6):c.1069G>C (p.A357P) - ANTXR2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1070C>G r.(?) p.(Ala357Gly) Unknown - likely benign g.80905989G>C - ANTXR2(NM_058172.5):c.1070C>G (p.(Ala357Gly)) - ANTXR2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.1072_1073dup r.(?) p.(Ala359Leufs*51) Parent #1 - pathogenic (recessive) g.80905988_80905989dup g.79984834_79984835dup 1601-1602insCC - ANTXR2_000002 - PubMed: Hanks 2003, PubMed: Yan 2013 - - Germline - - - - - DNA SEQ - - HFS 14508707-FamL PubMed: Hanks 2003 2-generation family, 2 affected, unaffected heterozygous carrier parents - - Switzerland - - - - - 2 Shixu Yan
+/. - c.1073del r.(1073del) p.(Pro358Leufs*51) Parent #1 ACMG pathogenic g.80905989del g.79984835del 1070del - ANTXR2_000031 biallelic pathogenic/likely pathogenic variants are associated with a different phenotype (Hyaline Fibromatosis Syndrome (OMIM #228600) Journal: Romano 2025 - - Germline ? - - - - DNA SEQ-NG blood - VMCM Pat5 Journal: Romano 2025 - - no Italy - - - - - 1 Ferruccio Romano
+/. 13 c.1073dup r.(?) p.(Ala359Cysfs*13) Both (homozygous) - pathogenic (recessive) g.80905989dup g.79984835dup 1073_1074insC - ANTXR2_000001 - PubMed: Deuquet 2011, PubMed: Yan 2013 - - Germline - - - - - DNA SEQ - - HFS 21328543-Fam4PatII2 PubMed: Deuquet 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Swaziland - - - - - 1 Shixu Yan
+/. - c.1073dup r.(?) p.(Ala359Cysfs*13) Parent #2 - pathogenic (recessive) g.80905989dup g.79984835dup P357 insC - ANTXR2_000001 - PubMed: Dowling 2003, PubMed: Yan 2013 - - Germline yes - - - - DNA SEQ - - HFS 12973667-FamISH2 PMID:Dowling 2003:12973667} 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M - Switzerland - - - - - 2 Shixu Yan
+/. - c.1073dup r.(?) p.(Ala359Cysfs*13) Parent #2 - pathogenic (recessive) g.80905989dup g.79984835dup 1073_1074insC - ANTXR2_000001 - PubMed: Deuquet 2011, PubMed: Yan 2013 - - Germline - - - - - DNA SEQ - - HFS 21328543-Fam2PatII2 PubMed: Deuquet 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Switzerland - - - - - 1 Shixu Yan
+/. 13 c.1074del r.(?) p.(Ala359Hisfs*50) Parent #2 - pathogenic (recessive) g.80905985del g.79984831del delT A359HfsX50 - ANTXR2_000003 - PubMed: Deuquet 2011, PubMed: Yan 2013 - - Germline - - - - - DNA SEQ - - HFS 21328543-Fam1PatII1 PubMed: Deuquet 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Switzerland - - - - - 1 Shixu Yan
+/. - c.1074del r.(?) p.(Ala359HisfsTer50) Unknown - pathogenic g.80905985del g.79984831del ANTXR2(NM_058172.6):c.1074del (p.(Ala359HisfsTer50)), ANTXR2(NM_058172.6):c.1074delT (p.A359Hfs*50) - ANTXR2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1074del - - Both (homozygous) - pathogenic (recessive) g.80905985del g.79984831del NM_058172.5:c.1074delT:p.(Ala359Hisfs*50) - ANTXR2_000003 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 08DG00156 PubMed: Maddirevula 2018 family F yes - Arab - - - - 1 LOVD
+/. - c.1074del r.(?) p.(Ala359HisfsTer50) Unknown - pathogenic g.80905985del - ANTXR2(NM_058172.6):c.1074del (p.(Ala359HisfsTer50)), ANTXR2(NM_058172.6):c.1074delT (p.A359Hfs*50) - ANTXR2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1142A>G r.(?) p.(Tyr381Cys) Unknown - pathogenic g.80905069T>C - - - ANTXR2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1150C>T r.(?) p.(Arg384*) Unknown - pathogenic g.80905061G>A - ANTXR2(NM_058172.6):c.1150C>T (p.R384*) - ANTXR2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1190dup r.(?) p.(Asp398Ter) Unknown - pathogenic g.80899321dup g.79978167dup - - ANTXR2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1294C>T r.(?) p.(Arg432Ter) Unknown - pathogenic g.80899214G>A g.79978060G>A ANTXR2(NM_058172.5):c.1294C>T (p.(Arg432Ter)) - ANTXR2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1305del r.(?) p.(Thr436Hisfs*24) Parent #1 - pathogenic g.80899205del g.79978051del - - ANTXR2_000024 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs797045028 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.1360G>A r.(?) p.(Ala454Thr) Unknown - VUS g.80898843C>T g.79977689C>T ANTXR2(NM_001145794.1):c.1360G>A (p.(Ala454Thr)) - ANTXR2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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