NM_023110.3(FGFR1):c.2302G>A (p.Asp768Asn) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003808497.1
Allele description
NM_023110.3(FGFR1):c.2302G>A (p.Asp768Asn)
Condition(s)
- Name:
- Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
- Synonyms:
- Kallmann syndrome 2; HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA; HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY TO; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007844; MedGen: C1563720; Orphanet: 478; OMIM: 147950
-
Klebsiella variicola strain WUSM_KV_22 NODE_8_length_247397_cov_25.0474, whole g...
Klebsiella variicola strain WUSM_KV_22 NODE_8_length_247397_cov_25.0474, whole genome shotgun sequencegi|1396567445|gb|QIYA01000008.1||gn :QIYA01|NODE_8_length_247397_cov_25.0474Nucleotide
-
Lepisosteus oculatus
Lepisosteus oculatusLepisosteus oculatus RefSeq GenomeBioProject
-
BioProject Links for Protein (Select 973201400) (1)
BioProject
-
Candidatus Coxiella mudrowiae strain CRt chromosome, complete genome
Candidatus Coxiella mudrowiae strain CRt chromosome, complete genomegi|890040830|ref|NZ_CP011126.1|Nucleotide
-
Nucleotide Links for PopSet (Select 340538852) (46)
Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Mar 5, 2024