chr4:1807891:G>C Detail (hg19) (FGFR3)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr4:1,807,891-1,807,891 |
hg38 | chr4:1,806,164-1,806,164 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001163213.1:c.1956G>C | NP_001156685.1:p.Lys652Asn |
NM_022965.3:c.1938G>C | NP_075254.1:p.Lys646Asn | |
NM_000142.4:c.1950G>C | NP_000133.1:p.Lys650Asn |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2021-06-01 | criteria provided, single submitter | hypochondroplasia |
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Detail |
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2023-08-10 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2021-08-21 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,achondroplasia,cervical cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Levy-Hollister syndrome |
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Detail |
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2021-08-21 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,achondroplasia,cervical cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Levy-Hollister syndrome |
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Detail |
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2021-08-21 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,achondroplasia,cervical cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Levy-Hollister syndrome |
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Detail |
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2021-08-21 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,achondroplasia,cervical cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Levy-Hollister syndrome |
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Detail |
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2021-08-21 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,achondroplasia,cervical cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Levy-Hollister syndrome |
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Detail |
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2021-08-21 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,achondroplasia,cervical cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Levy-Hollister syndrome |
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Detail |
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2021-08-21 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,achondroplasia,cervical cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Levy-Hollister syndrome |
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Detail |
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2021-08-21 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,achondroplasia,cervical cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Levy-Hollister syndrome |
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Detail |
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2021-08-21 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,achondroplasia,cervical cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Levy-Hollister syndrome |
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Detail |
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2021-08-21 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,achondroplasia,cervical cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Levy-Hollister syndrome |
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Detail |
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2021-08-21 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,achondroplasia,cervical cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Levy-Hollister syndrome |
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Detail |
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2021-08-21 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,achondroplasia,cervical cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Levy-Hollister syndrome |
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Detail |
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2021-08-21 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,achondroplasia,cervical cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Levy-Hollister syndrome |
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Detail |
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2021-08-21 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,achondroplasia,cervical cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Levy-Hollister syndrome |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.495 | Hypochondroplasia (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) AND Hypochondroplasia | ClinVar | Detail |
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) AND not provided | ClinVar | Detail |
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) 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
- rs28928868 dbSNP
- Genome
- hg19
- Position
- chr4:1,807,891-1,807,891
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
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