NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) AND ABCB4-related disorder
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 5, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004532350.2
Allele description [Variation Report for NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)]
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)
Condition(s)
- Name:
- ABCB4-related disorder
- Synonyms:
- ABCB4-related disorders; ABCB4-related condition
- Identifiers:
-
Triglops nybelini voucher 06-560 cytochrome oxidase subunit 1 (COI) gene, partia...
Triglops nybelini voucher 06-560 cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrialgi|429141305|gnl|uoguelph|SCAFB481- I-5P|gb|KC015998.1|Nucleotide
-
Abnormal uterine cervix morphology
Abnormal uterine cervix morphologyMedGen
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See more...Assertion and evidence details
Last Updated: Oct 26, 2024