Full data view for gene MEOX1

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

9 entries on 1 page. Showing entries 1 - 9.
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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.80C>T r.(?) p.(Ser27Leu) Unknown - benign g.41738823G>A g.43661455G>A MEOX1(NM_004527.3):c.80C>T (p.S27L) - MEOX1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.80C>T r.(?) p.(Ser27Leu) Unknown - benign g.41738823G>A g.43661455G>A MEOX1(NM_004527.3):c.80C>T (p.S27L) - MEOX1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.91del r.(?) p.(Ala32Profs*165) Both (homozygous) - pathogenic (recessive) g.41738812del g.43661444del NM_004527.3:c.94delG:p.(Ala32Profs*165) - MEOX1_000001 - PubMed: Maddirevula 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia 12DG0126, 12DG0941 , 12DG0942 PubMed: Maddirevula 2018 family, 3 affected (F, 2M) F;M yes - Arab - 0 - - 3 -
+/? 1 c.94del r.(?) p.(Ala32Profs*165) Both (homozygous) - pathogenic g.41738812del g.43661444del - - MEOX1_000001 - PubMed: Mohamed 2013 - - Germline - - - 0 - DNA arraySNP, PCR - - KFS-2 - - - F yes Saudi Arabia Arab - 0 - - 1 Fowzan Alkuraya
-?/. - c.117G>C r.(?) p.(Pro39=) Unknown - likely benign g.41738786C>G - MEOX1(NM_004527.3):c.117G>C (p.P39=) - MEOX1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.305G>A r.(?) p.(Arg102Gln) Unknown - VUS g.41738598C>T - MEOX1(NM_001040002.1):c.-41G>A (p.(=)) - MEOX1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.331G>A r.(?) p.(Gly111Arg) Unknown - VUS g.41738572C>T g.43661204C>T MEOX1(NM_001040002.1):c.-15G>A (p.(=)) - MEOX1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.386G>T r.(?) p.(Gly129Val) Unknown - VUS g.41738517C>A g.43661149C>A MEOX1(NM_001040002.1):c.41G>T (p.(Gly14Val)) - MEOX1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 3 c.664C>T r.(?) p.(Arg222*) Both (homozygous) - pathogenic g.41719379G>A g.43642011G>A - - MEOX1_000002 - PubMed: Mohamed 2013 - - Germline - - - 0 - DNA arraySNP, PCR - - KFS-2 - - - M yes Saudi Arabia Arab - 0 - - 1 Fowzan Alkuraya
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