NM_006876.3(B4GAT1):c.69G>C (p.Ala23=) AND Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 20, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000541684.9
Allele description [Variation Report for NM_006876.3(B4GAT1):c.69G>C (p.Ala23=)]
NM_006876.3(B4GAT1):c.69G>C (p.Ala23=)
Condition(s)
- Name:
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- Synonyms:
- WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, B3GNT1-RELATED; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13
- Identifiers:
- MONDO: MONDO:0014120; MedGen: C3809042; Orphanet: 899; OMIM: 615287
-
Escherichia coli KOEGE 73 (195a) genomic scaffold acYxc-supercont1.6, whole geno...
Escherichia coli KOEGE 73 (195a) genomic scaffold acYxc-supercont1.6, whole genome shotgun sequencegi|537159283|gnl|WGS:AWAP01|acYxc-s ont1.6|gb|KE701398.1|Nucleotide
-
Escherichia coli KOEGE 73 (195a) genomic scaffold acYxc-supercont1.2, whole geno...
Escherichia coli KOEGE 73 (195a) genomic scaffold acYxc-supercont1.2, whole genome shotgun sequencegi|537159300|gnl|WGS:AWAP01|acYxc-s ont1.2|gb|KE701394.1|Nucleotide
-
interferon induced protein with tetratricopeptide repeats 1B like 2 [Mus musculu...
interferon induced protein with tetratricopeptide repeats 1B like 2 [Mus musculus]gi|1375023107|ref|NP_001349059.1|Protein
-
Mus musculus PDZ and LIM domain 1 (elfin) (Pdlim1), mRNA
Mus musculus PDZ and LIM domain 1 (elfin) (Pdlim1), mRNAgi|158635991|ref|NM_016861.4|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 8, 2024