NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile) AND Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 26, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001333958.2
Allele description [Variation Report for NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile)]
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile)
Condition(s)
- Name:
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
- Synonyms:
- WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3
- Identifiers:
- MONDO: MONDO:0009667; MedGen: C3151519; OMIM: 253280
-
Enterobacter sp. BAB-5776 16S ribosomal RNA gene, partial sequence
Enterobacter sp. BAB-5776 16S ribosomal RNA gene, partial sequencegi|1026604864|gb|KX168041.1|Nucleotide
-
LOC119433962 [Dermacentor silvarum]
LOC119433962 [Dermacentor silvarum]Gene ID:119433962Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024