NM_017780.4(CHD7):c.1740A>G (p.Leu580=) AND CHARGE syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003602718.2
Allele description [Variation Report for NM_017780.4(CHD7):c.1740A>G (p.Leu580=)]
NM_017780.4(CHD7):c.1740A>G (p.Leu580=)
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
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phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform X2 [Rattus norveg...
phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform X2 [Rattus norvegicus]gi|1958789161|ref|XP_038934948.1|Protein
-
Edaphochlamys debaryana chloroplast, complete genome
Edaphochlamys debaryana chloroplast, complete genomegi|2414553577|ref|NC_069043.1|Nucleotide
-
Hedyosmum arborescens maturase K (matK) gene, partial cds; chloroplast gene for ...
Hedyosmum arborescens maturase K (matK) gene, partial cds; chloroplast gene for chloroplast productgi|18419704|gb|AF465296.1|Nucleotide
-
UNVERIFIED: Heterosamara mannii rpl23-like and rpl2-like genes, complete sequenc...
UNVERIFIED: Heterosamara mannii rpl23-like and rpl2-like genes, complete sequence; chloroplastgi|2452247086|gb|OM858606.1|Nucleotide
-
UNVERIFIED: Heterosamara mannii PsbK-like gene, complete sequence; chloroplast
UNVERIFIED: Heterosamara mannii PsbK-like gene, complete sequence; chloroplastgi|2452246696|gb|OM858216.1|Nucleotide
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Last Updated: Sep 29, 2024