NM_000295.4(SERPINA1):c.-165A>G AND Alpha-1-antitrypsin deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001119102.13
Allele description [Variation Report for NM_000295.4(SERPINA1):c.-165A>G]
NM_000295.4(SERPINA1):c.-165A>G
Condition(s)
-
rho GTPase-activating protein 5 [Macaca mulatta]
rho GTPase-activating protein 5 [Macaca mulatta]gi|310832404|ref|NP_001185592.1|Protein
-
Homo sapiens NOP2/Sun RNA methyltransferase 6 (NSUN6), transcript variant 3, mRN...
Homo sapiens NOP2/Sun RNA methyltransferase 6 (NSUN6), transcript variant 3, mRNAgi|1675033629|ref|NM_001351116.2|Nucleotide
-
Homo sapiens ankyrin repeat and EF-hand domain containing 1 (ANKEF1), transcript...
Homo sapiens ankyrin repeat and EF-hand domain containing 1 (ANKEF1), transcript variant 1, mRNAgi|744066805|ref|NM_022096.5|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 16, 2024