NM_153704.6(TMEM67):c.2484T>A (p.Gly828=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003787411.2
Allele description [Variation Report for NM_153704.6(TMEM67):c.2484T>A (p.Gly828=)]
NM_153704.6(TMEM67):c.2484T>A (p.Gly828=)
Condition(s)
- Name:
- Familial aplasia of the vermis
- Synonyms:
- CEREBELLOPARENCHYMAL DISORDER IV; Joubert syndrome; Cerebelloparenchymal disorder 4; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0018772; MedGen: C0431399; Orphanet: 475; OMIM: PS213300
-
galectin-9 isoform 2 [Mus musculus]
galectin-9 isoform 2 [Mus musculus]gi|226531139|ref|NP_001152773.1|Protein
-
cytochrome b (mitochondrion) [Thraupis sayaca]
cytochrome b (mitochondrion) [Thraupis sayaca]gi|2317753560|gb|UYG47232.1|Protein
-
Giardia lamblia P15 contig9, whole genome shotgun sequence
Giardia lamblia P15 contig9, whole genome shotgun sequencegi|308161187|gb|ACVC01000123.1||gnl ACVC01|contig9Nucleotide
-
Mus musculus golgi phosphoprotein 4 (Golph4), mRNA
Mus musculus golgi phosphoprotein 4 (Golph4), mRNAgi|60097937|ref|NM_175193.4|Nucleotide
-
Vibrio parahaemolyticus S137 Contig466, whole genome shotgun sequence
Vibrio parahaemolyticus S137 Contig466, whole genome shotgun sequencegi|540191209|gb|AWIP01000466.1||gnl AWIP01|Contig466Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024