ClinVar

NM_198241.3(EIF4G1):c.3698T>C (p.Leu1233Pro)

Gene:

EIF4G1:eukaryotic translation initiation factor 4 gamma 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q27.1

Genomic location:

• Chr3: 184327622 (on Assembly GRCh38)
• Chr3: 184045410 (on Assembly GRCh37)

Preferred name:

NM_198241.3(EIF4G1):c.3698T>C (p.Leu1233Pro)

HGVS:

• NC_000003.12:g.184327622T>C
• NG_016850.1:g.18055T>C
• NM_001194946.2:c.3719T>C
• NM_001194947.2:c.3719T>C
• NM_001291157.2:c.3578T>C
• NM_004953.5:c.3113T>C
• NM_182917.4:c.3701T>C
• NM_198241.3:c.3698T>CMANE SELECT
• NM_198242.3:c.3206T>C
• NM_198244.3:c.3437T>C
• NP_001181875.2:p.Leu1240Pro
• NP_001181876.2:p.Leu1240Pro
• NP_001278086.2:p.Leu1193Pro
• NP_004944.3:p.Leu1038Pro
• NP_886553.3:p.Leu1234Pro
• NP_937884.2:p.Leu1233Pro
• NP_937885.1:p.Leu1069Pro
• NP_937887.2:p.Leu1146Pro
• NC_000003.11:g.184045410T>C
• NM_198241.2:c.3698T>C

This HGVS expression did not pass validation

Protein change:

L1038P

Links:

dbSNP: rs2230570

NCBI 1000 Genomes Browser:

rs2230570

Molecular consequence:

• NM_001194946.2:c.3719T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001194947.2:c.3719T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001291157.2:c.3578T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_004953.5:c.3113T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_182917.4:c.3701T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_198241.3:c.3698T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_198242.3:c.3206T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_198244.3:c.3437T>C - missense variant - [Sequence Ontology: SO:0001583]