chr10:121517371:C>T Detail (hg38) (FGFR2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr10:123,276,885-123,276,885 View the variant detail on this assembly version. |
hg38 | chr10:121,517,371-121,517,371 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001144916.1:c.687G>A | NP_001138388.1:p.Ala229= |
NM_001144918.1:c.687G>A | NP_001138390.1:p.Ala229= | |
NM_001144915.1:c.765G>A | NP_001138387.1:p.Ala255= |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2016-09-17 | criteria provided, single submitter | Crouzon syndrome |
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Detail |
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2005-10-15 | no assertion criteria provided | Craniosynostosis, nonclassifiable autosomal dominant |
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Detail |
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2005-10-15 | no assertion criteria provided | Scaphocephaly and axenfeld-rieger anomaly |
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Detail |
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2015-02-20 | criteria provided, single submitter | Craniosynostosis syndrome |
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Detail |
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2024-01-19 | criteria provided, single submitter | FGFR2-related craniosynostosis |
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Detail |
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2018-10-31 | criteria provided, single submitter | Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Crouzon syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Levy-Hollister syndrome,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Beare-Stevenson cutis gyrata syndrome,Neoplasm of stomach,Pfeiffer syndrome |
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Detail |
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2018-10-31 | criteria provided, single submitter | Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Crouzon syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Levy-Hollister syndrome,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Beare-Stevenson cutis gyrata syndrome,Neoplasm of stomach,Pfeiffer syndrome |
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Detail |
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2018-10-31 | criteria provided, single submitter | Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Crouzon syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Levy-Hollister syndrome,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Beare-Stevenson cutis gyrata syndrome,Neoplasm of stomach,Pfeiffer syndrome |
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Detail |
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2018-10-31 | criteria provided, single submitter | Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Crouzon syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Levy-Hollister syndrome,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Beare-Stevenson cutis gyrata syndrome,Neoplasm of stomach,Pfeiffer syndrome |
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Detail |
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2018-10-31 | criteria provided, single submitter | Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Crouzon syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Levy-Hollister syndrome,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Beare-Stevenson cutis gyrata syndrome,Neoplasm of stomach,Pfeiffer syndrome |
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Detail |
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2018-10-31 | criteria provided, single submitter | Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Crouzon syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Levy-Hollister syndrome,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Beare-Stevenson cutis gyrata syndrome,Neoplasm of stomach,Pfeiffer syndrome |
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Detail |
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2018-10-31 | criteria provided, single submitter | Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Crouzon syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Levy-Hollister syndrome,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Beare-Stevenson cutis gyrata syndrome,Neoplasm of stomach,Pfeiffer syndrome |
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Detail |
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2018-10-31 | criteria provided, single submitter | Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Crouzon syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Levy-Hollister syndrome,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Beare-Stevenson cutis gyrata syndrome,Neoplasm of stomach,Pfeiffer syndrome |
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Detail |
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2018-10-31 | criteria provided, single submitter | Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Crouzon syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Levy-Hollister syndrome,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Beare-Stevenson cutis gyrata syndrome,Neoplasm of stomach,Pfeiffer syndrome |
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Detail |
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2018-10-31 | criteria provided, single submitter | Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Crouzon syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Levy-Hollister syndrome,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Beare-Stevenson cutis gyrata syndrome,Neoplasm of stomach,Pfeiffer syndrome |
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Detail |
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2018-10-31 | criteria provided, single submitter | Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Crouzon syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Levy-Hollister syndrome,Familial scaphocephaly syndrome, McGillivray type,Saethre-Chotzen syndrome,Beare-Stevenson cutis gyrata syndrome,Neoplasm of stomach,Pfeiffer syndrome |
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Detail |
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2022-03-04 | criteria provided, single submitter | not provided |
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Detail |
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2022-05-04 | criteria provided, single submitter | Acrocephalosyndactyly type I |
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Detail |
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2022-05-22 | criteria provided, single submitter | Pfeiffer syndrome |
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Detail |
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2022-05-06 | criteria provided, single submitter | FGFR2-related disorder |
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Detail |
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2021-09-17 | criteria provided, single submitter | Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Crouzon syndrome,Levy-Hollister syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Pfeiffer syndrome,Gastric cancer,Saethre-Chotzen syndrome,Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis |
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Detail |
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2021-09-17 | criteria provided, single submitter | Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Crouzon syndrome,Levy-Hollister syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Pfeiffer syndrome,Gastric cancer,Saethre-Chotzen syndrome,Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis |
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Detail |
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2021-09-17 | criteria provided, single submitter | Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Crouzon syndrome,Levy-Hollister syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Pfeiffer syndrome,Gastric cancer,Saethre-Chotzen syndrome,Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis |
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Detail |
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2021-09-17 | criteria provided, single submitter | Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Crouzon syndrome,Levy-Hollister syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Pfeiffer syndrome,Gastric cancer,Saethre-Chotzen syndrome,Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis |
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Detail |
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2021-09-17 | criteria provided, single submitter | Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Crouzon syndrome,Levy-Hollister syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Pfeiffer syndrome,Gastric cancer,Saethre-Chotzen syndrome,Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis |
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Detail |
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2021-09-17 | criteria provided, single submitter | Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Crouzon syndrome,Levy-Hollister syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Pfeiffer syndrome,Gastric cancer,Saethre-Chotzen syndrome,Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis |
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Detail |
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2021-09-17 | criteria provided, single submitter | Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Crouzon syndrome,Levy-Hollister syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Pfeiffer syndrome,Gastric cancer,Saethre-Chotzen syndrome,Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis |
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Detail |
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2021-09-17 | criteria provided, single submitter | Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Crouzon syndrome,Levy-Hollister syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Pfeiffer syndrome,Gastric cancer,Saethre-Chotzen syndrome,Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis |
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Detail |
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2021-09-17 | criteria provided, single submitter | Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Crouzon syndrome,Levy-Hollister syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Pfeiffer syndrome,Gastric cancer,Saethre-Chotzen syndrome,Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis |
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Detail |
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2021-09-17 | criteria provided, single submitter | Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Crouzon syndrome,Levy-Hollister syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Pfeiffer syndrome,Gastric cancer,Saethre-Chotzen syndrome,Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis |
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Detail |
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2021-09-17 | criteria provided, single submitter | Beare-Stevenson cutis gyrata syndrome,Familial scaphocephaly syndrome, McGillivray type,Crouzon syndrome,Levy-Hollister syndrome,Bent bone dysplasia syndrome 1,Acrocephalosyndactyly type I,Pfeiffer syndrome,Gastric cancer,Saethre-Chotzen syndrome,Jackson-Weiss syndrome,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.255 | Craniofacial Dysostosis | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND Crouzon syndrome | ClinVar | Detail |
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND Craniosynostosis, nonclassifiable autosomal dominant | ClinVar | Detail |
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND Scaphocephaly and axenfeld-rieger anomaly | ClinVar | Detail |
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND Craniosynostosis syndrome | ClinVar | Detail |
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND FGFR2-related craniosynostosis | ClinVar | Detail |
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions | ClinVar | Detail |
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions | ClinVar | Detail |
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions | ClinVar | Detail |
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions | ClinVar | Detail |
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions | ClinVar | Detail |
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions | ClinVar | Detail |
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions | ClinVar | Detail |
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions | ClinVar | Detail |
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions | ClinVar | Detail |
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions | ClinVar | Detail |
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions | ClinVar | Detail |
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND not provided | ClinVar | Detail |
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND Acrocephalosyndactyly type I | ClinVar | Detail |
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND Pfeiffer syndrome | ClinVar | Detail |
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND FGFR2-related disorder | ClinVar | Detail |
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions | ClinVar | Detail |
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions | ClinVar | Detail |
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions | ClinVar | Detail |
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions | ClinVar | Detail |
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions | ClinVar | Detail |
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions | ClinVar | Detail |
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions | ClinVar | Detail |
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions | ClinVar | Detail |
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions | ClinVar | Detail |
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions | ClinVar | Detail |
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) AND multiple conditions | ClinVar | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
---|
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs121918491 dbSNP
- Genome
- hg38
- Position
- chr10:121,517,371-121,517,371
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser