NM_000393.5(COL5A2):c.4197G>A (p.Gln1399=) AND not specified
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- May 5, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000199407.8
Allele description [Variation Report for NM_000393.5(COL5A2):c.4197G>A (p.Gln1399=)]
NM_000393.5(COL5A2):c.4197G>A (p.Gln1399=)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Rattus norvegicus strain BN chromosome X CRA_213000033972552, whole genome shotg...
Rattus norvegicus strain BN chromosome X CRA_213000033972552, whole genome shotgun sequencegi|70493799|gb|AAHX01109995.1||gnl| AHX|CRA_213000033972552Nucleotide
-
PPARGC1A AND (alive[prop]) (885)
Gene
-
UDP-N-acetylmuramoylalanyl-D-glutamate--2, 6-diaminopimelate ligase [Francisella...
UDP-N-acetylmuramoylalanyl-D-glutamate--2, 6-diaminopimelate ligase [Francisella tularensis subsp. mediasiatica FSC147]gi|187712280|gnl|19571|FTM_0576|gb| 577.1|Protein
-
RecName: Full=Potassium voltage-gated channel subfamily KQT member 2; AltName: F...
RecName: Full=Potassium voltage-gated channel subfamily KQT member 2; AltName: Full=KQT-like 2; AltName: Full=Potassium channel subunit alpha KvLQT2; AltName: Full=Voltage-gated potassium channel subunit Kv7.2gi|14285384|sp|O88943.1|KCNQ2_RATProtein
-
Essentials of Glycobiology
Essentials of Glycobiology
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024