ClinVar

NM_020975.6(RET):c.341G>A (p.Arg114His)

Gene:

RET:ret proto-oncogene [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q11.21

Genomic location:

• Chr10: 43102345 (on Assembly GRCh38)
• Chr10: 43597793 (on Assembly GRCh37)

Preferred name:

NM_020975.6(RET):c.341G>A (p.Arg114His)

HGVS:

• NC_000010.11:g.43102345G>A
• NG_007489.1:g.30277G>A
• NM_000323.2:c.341G>A
• NM_001406743.1:c.341G>A
• NM_001406744.1:c.341G>A
• NM_001406759.1:c.341G>A
• NM_001406760.1:c.341G>A
• NM_001406763.1:c.341G>A
• NM_001406765.1:c.341G>A
• NM_001406769.1:c.341G>A
• NM_001406771.1:c.341G>A
• NM_001406772.1:c.341G>A
• NM_001406773.1:c.341G>A
• NM_001406779.1:c.341G>A
• NM_001406780.1:c.341G>A
• NM_001406781.1:c.341G>A
• NM_001406782.1:c.341G>A
• NM_001406785.1:c.341G>A
• NM_001406787.1:c.341G>A
• NM_020629.2:c.341G>A
• NM_020630.7:c.341G>A
• NM_020975.6:c.341G>AMANE SELECT
• NP_000314.1:p.Arg114His
• NP_001393672.1:p.Arg114His
• NP_001393673.1:p.Arg114His
• NP_001393688.1:p.Arg114His
• NP_001393689.1:p.Arg114His
• NP_001393692.1:p.Arg114His
• NP_001393694.1:p.Arg114His
• NP_001393698.1:p.Arg114His
• NP_001393700.1:p.Arg114His
• NP_001393701.1:p.Arg114His
• NP_001393702.1:p.Arg114His
• NP_001393708.1:p.Arg114His
• NP_001393709.1:p.Arg114His
• NP_001393710.1:p.Arg114His
• NP_001393711.1:p.Arg114His
• NP_001393714.1:p.Arg114His
• NP_001393716.1:p.Arg114His
• NP_065680.1:p.Arg114His
• NP_065681.1:p.Arg114His
• NP_065681.1:p.Arg114His
• NP_065681.1:p.Arg114His
• NP_066124.1:p.Arg114His
• NP_066124.1:p.Arg114His
• LRG_518t1:c.341G>A
• LRG_518t2:c.341G>A
• LRG_518:g.30277G>A
• LRG_518p1:p.Arg114His
• LRG_518p2:p.Arg114His
• NC_000010.10:g.43597793G>A
• NM_020630.4:c.341G>A
• NM_020630.6:c.341G>A
• NM_020975.4:c.341G>A
• P07949:p.Arg114His
• p.R114H

This HGVS expression did not pass validation

Protein change:

R114H; ARG114HIS

Links:

UniProtKB: P07949#VAR_018154; OMIM: 164761.0045; dbSNP: rs76397662

NCBI 1000 Genomes Browser:

rs76397662

Molecular consequence:

• NM_000323.2:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406743.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406744.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406759.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406760.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406763.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406765.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406769.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406771.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406772.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406773.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406779.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406780.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406781.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406782.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406785.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406787.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_020629.2:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_020630.7:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_020975.6:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1