ClinVar

NM_023110.3(FGFR1):c.2465G>A (p.Arg822His)

Gene:

FGFR1:fibroblast growth factor receptor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p11.23

Genomic location:

• Chr8: 38413632 (on Assembly GRCh38)
• Chr8: 38271150 (on Assembly GRCh37)

Preferred name:

NM_023110.3(FGFR1):c.2465G>A (p.Arg822His)

HGVS:

• NC_000008.11:g.38413632C>T
• NG_007729.1:g.60203G>A
• NM_001174063.2:c.2459G>A
• NM_001174064.2:c.2435G>A
• NM_001174065.2:c.2459G>A
• NM_001174066.2:c.2198G>A
• NM_001174067.2:c.2558G>A
• NM_001354367.2:c.2286+286G>A
• NM_001354368.2:c.2186G>A
• NM_001354369.2:c.2280+286G>A
• NM_001354370.2:c.2019+286G>A
• NM_015850.4:c.2459G>A
• NM_023105.3:c.2198G>A
• NM_023106.3:c.2192G>A
• NM_023110.3:c.2465G>AMANE SELECT
• NP_001167534.1:p.Arg820His
• NP_001167535.1:p.Arg812His
• NP_001167536.1:p.Arg820His
• NP_001167537.1:p.Arg733His
• NP_001167538.1:p.Arg853His
• NP_001341297.1:p.Arg729His
• NP_056934.2:p.Arg820His
• NP_075593.1:p.Arg733His
• NP_075594.1:p.Arg731His
• NP_075598.2:p.Arg822His
• NP_075598.2:p.Arg822His
• LRG_993t1:c.2465G>A
• LRG_993:g.60203G>A
• LRG_993p1:p.Arg822His
• NC_000008.10:g.38271150C>T
• NM_023110.2:c.2465G>A
• NM_023110.3:c.2465G>A

This HGVS expression did not pass validation

Protein change:

R729H

Links:

dbSNP: rs758677681

NCBI 1000 Genomes Browser:

rs758677681

Molecular consequence:

• NM_001354367.2:c.2286+286G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354369.2:c.2280+286G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354370.2:c.2019+286G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001174063.2:c.2459G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001174064.2:c.2435G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001174065.2:c.2459G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001174066.2:c.2198G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001174067.2:c.2558G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354368.2:c.2186G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015850.4:c.2459G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_023105.3:c.2198G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_023106.3:c.2192G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_023110.3:c.2465G>A - missense variant - [Sequence Ontology: SO:0001583]