Full data view for gene HMMR

Information The variants shown are described using the NM_012484.2 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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.-3601dup r.(?) p.(=) Unknown - benign g.162884098dup - NUDCD2(NM_145266.6):c.239-3dupT - HMMR_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.271A>T r.(?) p.(Ile91Phe) Unknown - VUS g.162896647A>T - HMMR(NM_001142556.2):c.274A>T (p.(Ile92Phe)) - HMMR_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.932A>G r.(?) p.(Asn311Ser) Unknown - likely benign g.162901093A>G - HMMR(NM_001142556.1):c.935A>G (p.(Asn312Ser)) - HMMR_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.969_970del r.(?) p.(Lys324Valfs*4) Unknown - VUS g.162901130_162901131del - HMMR(NM_001142556.2):c.972_973delGA (p.K325Vfs*4) - HMMR_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1114A>C r.(?) p.(Asn372His) Unknown - likely benign g.162902527A>C g.163475521A>C HMMR(NM_001142556.1):c.1117A>C (p.N373H) - HMMR_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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