GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1 AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 10, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000684658.1
Allele description [Variation Report for GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1]
GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: CN517202
-
Mus musculus epsin 1 (Epn1), transcript variant 18, mRNA
Mus musculus epsin 1 (Epn1), transcript variant 18, mRNAgi|2311270473|ref|NM_001412351.1|Nucleotide
-
epsin-1 isoform 1 [Mus musculus]
epsin-1 isoform 1 [Mus musculus]gi|2311270453|ref|NP_001399266.1|Protein
-
epsin-1 isoform 2 [Mus musculus]
epsin-1 isoform 2 [Mus musculus]gi|2311270503|ref|NP_001399277.1|Protein
-
Mus musculus epsin 1 (Epn1), transcript variant 8, mRNA
Mus musculus epsin 1 (Epn1), transcript variant 8, mRNAgi|2311270485|ref|NM_001412341.1|Nucleotide
-
epsin-1 isoform 7 [Mus musculus]
epsin-1 isoform 7 [Mus musculus]gi|2311270426|ref|NP_001399296.1|Protein
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See more...Assertion and evidence details
Last Updated: Mar 26, 2023