NM_000088.4(COL1A1):c.1128del (p.Gly377fs) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003128653.1
Allele description [Variation Report for NM_000088.4(COL1A1):c.1128del (p.Gly377fs)]
NM_000088.4(COL1A1):c.1128del (p.Gly377fs)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
AGENCOURT_15113713 NICHD_XGC_Emb6 Xenopus tropicalis cDNA clone IMAGE:6992033 3'...
AGENCOURT_15113713 NICHD_XGC_Emb6 Xenopus tropicalis cDNA clone IMAGE:6992033 3', mRNA sequencegi|33444362|gnl|dbEST|19455057|gb|C 54.1|Nucleotide
-
LOC112694749 [Homo sapiens]
LOC112694749 [Homo sapiens]Gene ID:112694749Gene
-
Abnormality of the reflex of the tensor tympani muscle
Abnormality of the reflex of the tensor tympani muscleMedGen
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024