NM_001110556.2(FLNA):c.280A>G (p.Asn94Asp) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003040916.3
Allele description [Variation Report for NM_001110556.2(FLNA):c.280A>G (p.Asn94Asp)]
NM_001110556.2(FLNA):c.280A>G (p.Asn94Asp)
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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Homo sapiens nuclear protein localization 4 homolog (S. cerevisiae), mRNA (cDNA ...
Homo sapiens nuclear protein localization 4 homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:2967712)gi|38197000|gb|BC013406.2|Nucleotide
-
Homo sapiens GRAM domain containing 4, mRNA (cDNA clone MGC:149847 IMAGE:4011907...
Homo sapiens GRAM domain containing 4, mRNA (cDNA clone MGC:149847 IMAGE:40119070), complete cdsgi|120537317|gb|BC129837.1|Nucleotide
-
txid7955[organism] AND (capn10[gene symbol] OR (GDQH01011302 OR G... (18)
txid7955[organism] AND (capn10[gene symbol] OR (GDQH01011302 OR GDQH01011302.* OR GDQH01026361 OR GDQH01026361.* OR XM_009298795 OR XM_009298795.* OR XM_693781 OR XM_693781.*))SearchGEO Profiles
-
AGENCOURT_81585561 NICHD_XGC_limb_m Xenopus laevis cDNA clone IMAGE:8531730 3', ...
AGENCOURT_81585561 NICHD_XGC_limb_m Xenopus laevis cDNA clone IMAGE:8531730 3', mRNA sequencegi|108753890|gnl|dbEST|39773673|gb| 967.1|Nucleotide
-
JGI_CAAN12186.fwd NIH_XGC_tropTe4 Xenopus tropicalis cDNA clone CAAN12186 5', mR...
JGI_CAAN12186.fwd NIH_XGC_tropTe4 Xenopus tropicalis cDNA clone CAAN12186 5', mRNA sequencegi|58718435|gnl|dbEST|27635596|gb|C 77.1|Nucleotide
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Last Updated: Sep 29, 2024