NM_012291.5(ESPL1):c.5169C>T (p.Asn1723=) AND ESPL1-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 11, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003964645.2
Allele description [Variation Report for NM_012291.5(ESPL1):c.5169C>T (p.Asn1723=)]
NM_012291.5(ESPL1):c.5169C>T (p.Asn1723=)
Condition(s)
- Name:
- ESPL1-related disorder
- Synonyms:
- ESPL1-related condition
- Identifiers:
-
Syma megarhyncha voucher KUNHM 7143 Fib5 gene, intron 5
Syma megarhyncha voucher KUNHM 7143 Fib5 gene, intron 5gi|1407517233|gb|MG001235.1|Nucleotide
-
Syma torotoro voucher KUNHM 5215 Fib5 gene, intron 5
Syma torotoro voucher KUNHM 5215 Fib5 gene, intron 5gi|1407517234|gb|MG001236.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 13, 2024