ClinVar

NM_000141.5(FGFR2):c.1572A>G (p.Thr524=)

Gene:

FGFR2:fibroblast growth factor receptor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q26.13

Genomic location:

• Chr10: 121498595 (on Assembly GRCh38)
• Chr10: 123258109 (on Assembly GRCh37)

Preferred name:

NM_000141.5(FGFR2):c.1572A>G (p.Thr524=)

HGVS:

• NC_000010.11:g.121498595T>C
• NG_012449.2:g.104864A>G
• NM_000141.5:c.1572A>GMANE SELECT
• NM_001144913.1:c.1575A>G
• NM_001144914.1:c.1236A>G
• NM_001144915.2:c.1305A>G
• NM_001144916.2:c.1227A>G
• NM_001144917.2:c.1224A>G
• NM_001144918.2:c.1221A>G
• NM_001144919.2:c.1308A>G
• NM_001320654.2:c.888A>G
• NM_001320658.2:c.1566A>G
• NM_022969.1:c.1575A>G
• NM_022970.4:c.1575A>G
• NM_023029.2:c.1305A>G
• NP_000132.3:p.Thr524=
• NP_000132.3:p.Thr524=
• NP_001138385.1:p.Thr525=
• NP_001138386.1:p.Thr412=
• NP_001138387.1:p.Thr435=
• NP_001138388.1:p.Thr409=
• NP_001138389.1:p.Thr408=
• NP_001138390.1:p.Thr407=
• NP_001138391.1:p.Thr436=
• NP_001307583.1:p.Thr296=
• NP_001307587.1:p.Thr522=
• NP_075258.1:p.Thr525=
• NP_075259.4:p.Thr525=
• NP_075259.4:p.Thr525=
• NP_075418.1:p.Thr435=
• LRG_994t1:c.1572A>G
• LRG_994t2:c.1575A>G
• LRG_994:g.104864A>G
• LRG_994p1:p.Thr524=
• LRG_994p2:p.Thr525=
• NC_000010.10:g.123258109T>C
• NM_000141.4:c.1572A>G
• NM_022970.3:c.1575A>G
• NR_073009.2:n.2008A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs74160613

NCBI 1000 Genomes Browser:

rs74160613

Molecular consequence:

• NR_073009.2:n.2008A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000141.5:c.1572A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001144913.1:c.1575A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001144914.1:c.1236A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001144915.2:c.1305A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001144916.2:c.1227A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001144917.2:c.1224A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001144918.2:c.1221A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001144919.2:c.1308A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001320654.2:c.888A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001320658.2:c.1566A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022969.1:c.1575A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022970.4:c.1575A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_023029.2:c.1305A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1