NM_024312.5(GNPTAB):c.1329A>G (p.Pro443=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 21, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001426181.13
Allele description [Variation Report for NM_024312.5(GNPTAB):c.1329A>G (p.Pro443=)]
NM_024312.5(GNPTAB):c.1329A>G (p.Pro443=)
Condition(s)
- Name:
- Mucolipidosis type II
- Synonyms:
- ML II ALPHA/BETA; I cell disease; Mucolipidosis 2; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009650; MedGen: C2673377; Orphanet: 576; OMIM: 252500
- Name:
- Pseudo-Hurler polydystrophy (ML3)
- Synonyms:
- ML III; ML III ALPHA/BETA; Mucolipidosis type 3A; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0018931; MedGen: C0033788; Orphanet: 577; OMIM: 252600
-
Taxonomy Links for Protein (Select 1569289716) (1)
Taxonomy
-
Concise Conserved Domain Links for Protein (Select 1569289674) (5)
Conserved Domains
-
Taxonomy Links for Protein (Select 929653975) (1)
Taxonomy
-
Nucleotide Links for Protein (Select 1569289716) (4)
Nucleotide
-
FRMPD4 FERM and PDZ domain containing 4 [Homo sapiens]
FRMPD4 FERM and PDZ domain containing 4 [Homo sapiens]Gene ID:9758Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 8, 2024