Annotation Detail

Information

Associated Genes: MTRR
Associated Variants: MTRR p.Ile22Met (p.I22M) ( ENST00000264668.6, ENST00000440940.7 )
MTRR p.Ile22Met (p.I22M) ( ENST00000264668.6, ENST00000440940.7 )
Associated Disease: Neural tube defects, folate-sensitive, susceptibility to
Source Database: ClinVar
Description: NM_002454.3(MTRR):c.66A>G (p.Ile22Met) AND Neural tube defects, folate-sensitive, susceptibility to
ClinVar Allele ID: 22068
ClinVar RefSeq Alternation Syntax: NR_134481.2:n.159A>G
ClinVar RefSeq Alternation Syntax: NR_157175.2:n.159A>G
ClinVar RefSeq Alternation Syntax: NR_157170.2:n.159A>G
ClinVar RefSeq Alternation Syntax: NM_002454.3:c.66A>G
ClinVar RefSeq Alternation Syntax: NM_024010.4:c.66A>G
ClinVar RefSeq Alternation Syntax: NR_157169.2:n.133A>G
ClinVar RefSeq Alternation Syntax: NR_157173.2:n.133A>G
ClinVar RefSeq Alternation Syntax: NR_157177.2:n.159A>G
ClinVar RefSeq Alternation Syntax: NM_001364442.2:c.66A>G
ClinVar RefSeq Alternation Syntax: NR_157171.2:n.133A>G
ClinVar RefSeq Alternation Syntax: NM_001364441.2:c.66A>G
ClinVar RefSeq Alternation Syntax: NR_134482.2:n.159A>G
ClinVar RefSeq Alternation Syntax: NR_157176.2:n.159A>G
ClinVar RefSeq Alternation Syntax: NR_134480.2:n.159A>G
ClinVar RefSeq Alternation Syntax: NR_157174.2:n.159A>G
ClinVar RefSeq Alternation Syntax: NR_157172.2:n.159A>G
ClinVar RefSeq Alternation Syntax: NR_157178.2:n.159A>G
ClinVar RefSeq Alternation Syntax: NR_157168.2:n.133A>G
ClinVar RefSeq Alternation Syntax: NM_001364440.2:c.66A>G
Clinical Significance Description: risk factor
Clinical Significance Last Update: 2005-07-01
Clinical Significance Review Status: no assertion criteria provided
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000007444
ClinVar Disease: Neural tube defects, folate-sensitive, susceptibility to
Observed Origin Sample: germline
Pubmed: 10500018
Pubmed: 15979034
Pubmed: 12923861
Pubmed: 9501215
Pubmed: 10930360
Pubmed: 10444342
Pubmed: 12375236

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