NM_017780.4(CHD7):c.5393T>C (p.Val1798Ala) AND CHARGE syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003604117.2
Allele description [Variation Report for NM_017780.4(CHD7):c.5393T>C (p.Val1798Ala)]
NM_017780.4(CHD7):c.5393T>C (p.Val1798Ala)
Condition(s)
- Name:
- CHARGE syndrome (CHARGE)
- Synonyms:
- CHARGE ASSOCIATION--COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES; Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies; CHARGE association; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008965; MedGen: C0265354; Orphanet: 138; OMIM: 214800
-
NADP-dependent oxidoreductase [Hymenobacter canadensis]
NADP-dependent oxidoreductase [Hymenobacter canadensis]gi|2417462882|gnl|PRJNA912861|O3303 0|gb|WBA42329.1|Protein
-
COG5 [Otolemur garnettii]
COG5 [Otolemur garnettii]Gene ID:100945839Gene
-
DC193089 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone st114f...
DC193089 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone st114f19 5', mRNA sequencegi|119124968|gnl|dbEST|43389922|dbj 3089.1|Nucleotide
-
CBWN16684.b1 NICHD_XGC_tropTe1 Xenopus tropicalis cDNA clone IMAGE:8921733 5', m...
CBWN16684.b1 NICHD_XGC_tropTe1 Xenopus tropicalis cDNA clone IMAGE:8921733 5', mRNA sequencegi|133801421|gnl|dbEST|45231025|gb| 065.1|Nucleotide
-
AGENCOURT_73781956 NICHD_XGC_olfb Xenopus laevis cDNA clone IMAGE:8536974 5', mR...
AGENCOURT_73781956 NICHD_XGC_olfb Xenopus laevis cDNA clone IMAGE:8536974 5', mRNA sequencegi|92073982|gnl|dbEST|38004302|gb|E 52.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024