NM_000141.5(FGFR2):c.1179A>T (p.Val393=) AND Beare-Stevenson cutis gyrata syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000263500.6
Allele description [Variation Report for NM_000141.5(FGFR2):c.1179A>T (p.Val393=)]
NM_000141.5(FGFR2):c.1179A>T (p.Val393=)
Condition(s)
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MULTISPECIES: efflux RND transporter periplasmic adaptor subunit [Actinobacillus...
MULTISPECIES: efflux RND transporter periplasmic adaptor subunit [Actinobacillus]gi|491823973|ref|WP_005619037.1|Protein
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homeobox protein SIX1 isoform 1 [Homo sapiens]
homeobox protein SIX1 isoform 1 [Homo sapiens]gi|5174681|ref|NP_005973.1|Protein
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Taxonomy Links for Protein (Select 503581642) (1)
Taxonomy
-
Taxonomy Links for SRA (Select 11175840) (1)
Taxonomy
-
Gene Links for Protein (Select 2462581404) (1)
Gene
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Last Updated: May 12, 2024