Annotation Detail

Information

Associated Genes: FGFR3
Associated Variants: FGFR3 p.Pro250Arg (p.P250R) ( ENST00000340107.9, ENST00000412135.7, ENST00000352904.6, ENST00000440486.8, ENST00000481110.7 )
FGFR3 p.Pro250Arg (p.P250R) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 )
Associated Disease: Muenke Syndrome
Source Database: ClinVar
Description: NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) AND Muenke syndrome
ClinVar Allele ID: 31379
ClinVar RefSeq Alternation Syntax: NM_000142.5:c.749C>G
ClinVar RefSeq Alternation Syntax: NM_001354810.2:c.749C>G
ClinVar RefSeq Alternation Syntax: NM_001163213.2:c.749C>G
ClinVar RefSeq Alternation Syntax: NM_001354809.2:c.749C>G
ClinVar RefSeq Alternation Syntax: NR_148971.2:n.1024C>G
ClinVar RefSeq Alternation Syntax: NM_022965.4:c.749C>G
Clinical Significance Description: Pathogenic/Likely pathogenic
Clinical Significance Last Update: 2022-12-28
Clinical Significance Review Status: criteria provided, multiple submitters, no conflicts
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000017746
ClinVar Disease: Muenke syndrome
Observed Origin Sample: germline
Observed Origin Sample: de novo
Observed Origin Sample: inherited
Observed Origin Sample: unknown
Observed Origin Sample: maternal
Observed Origin Sample: paternal
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Pubmed: 9580776

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