Full data view for gene LYRM4

Information The variants shown are described using the NM_020408.4 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 2 c.203G>T pathogenic (recessive) r.(?) p.(Arg68Leu) Both (homozygous) g.5216855C>A - - - LYRM4_000001 - PubMed: Lim 2013, Journal: Lim 2013, OMIM:var0001 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - Mitoexome gene sequencing COXPD 23814038-Fam PubMed: Lim 2013, Journal: Lim 2013 4-generation family, 2 affected (F, M), unaffected heterozygous carrier relatives F;M yes Lebanon;Syria - - 0 - - 1 Johan den Dunnen
?/. - c.207+29633del VUS r.(=) p.(=) Unknown g.5187232del - LYRM4(NM_001164840.1):c.208-4del (p.?) - LYRM4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.207+29633dup benign r.(=) p.(=) Unknown g.5187232dup - LYRM4(NM_001164841.2):c.207+29633dupT - LYRM4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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