NM_001110556.2(FLNA):c.3387C>T (p.Thr1129=) AND multiple conditions
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 26, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001085138.9
Allele description [Variation Report for NM_001110556.2(FLNA):c.3387C>T (p.Thr1129=)]
NM_001110556.2(FLNA):c.3387C>T (p.Thr1129=)
Condition(s)
- Name:
- Heterotopia, periventricular, X-linked dominant (PVNH1)
- Synonyms:
- PERIVENTRICULAR NODULAR HETEROTOPIA 1; X-linked periventricular heterotopia; Heterotopia familial nodular; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010233; MedGen: C1848213; Orphanet: 2149; Orphanet: 82004; OMIM: 300049
- Name:
- Melnick-Needles syndrome (MNS)
- Synonyms:
- Melnick-Needles osteodysplasty; Osteodysplasty of Melnick and Needles
- Identifiers:
- MONDO: MONDO:0010650; MedGen: C0025237; Orphanet: 2484; OMIM: 309350
- Name:
- Oto-palato-digital syndrome, type II (OPD2)
- Synonyms:
- OPD II SYNDROME; Oto-palato-digital syndrome type 2; Andre syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010571; MedGen: C1844696; Orphanet: 669; Orphanet: 90652; OMIM: 304120
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Diaporthe sp. BRIP 64233 internal transcribed spacer 1, partial sequence; 5.8S r...
Diaporthe sp. BRIP 64233 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequencegi|1033208017|gb|KU985011.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024