NM_000083.3(CLCN1):c.895G>C (p.Val299Leu) AND Abnormality of the musculature
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001814177.1
Allele description [Variation Report for NM_000083.3(CLCN1):c.895G>C (p.Val299Leu)]
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu)
Condition(s)
- Name:
- Abnormality of the musculature
- Identifiers:
- MedGen: C4021745; Human Phenotype Ontology: HP:0003011
-
unconventional myosin-Ib isoform 2 [Homo sapiens]
unconventional myosin-Ib isoform 2 [Homo sapiens]gi|44889481|ref|NP_036355.2|Protein
-
Variovorax paradoxus ZNC0006 L980_753, whole genome shotgun sequence
Variovorax paradoxus ZNC0006 L980_753, whole genome shotgun sequencegi|736491184|gb|JROV01000732.1||gnl JROV01|L980_753Nucleotide
-
Variovorax paradoxus ZNC0006 L980_722, whole genome shotgun sequence
Variovorax paradoxus ZNC0006 L980_722, whole genome shotgun sequencegi|736491274|gb|JROV01000701.1||gnl JROV01|L980_722Nucleotide
-
Variovorax paradoxus ZNC0006 L980_751, whole genome shotgun sequence
Variovorax paradoxus ZNC0006 L980_751, whole genome shotgun sequencegi|736491189|gb|JROV01000730.1||gnl JROV01|L980_751Nucleotide
-
hypothetical protein VITISV_031653 [Vitis vinifera]
hypothetical protein VITISV_031653 [Vitis vinifera]gi|147862647|emb|CAN83592.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024