ClinVar

NM_032236.8(USP48):c.1243A>G (p.Met415Val)

Gene:

USP48:ubiquitin specific peptidase 48 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.12

Genomic location:

• Chr1: 21729761 (on Assembly GRCh38)
• Chr1: 22056254 (on Assembly GRCh37)

Preferred name:

NM_032236.8(USP48):c.1243A>G (p.Met415Val)

HGVS:

• NC_000001.11:g.21729761T>C
• NG_047203.1:g.58439A>G
• NM_001032730.3:c.1243A>G
• NM_001330394.3:c.1243A>G
• NM_001350164.2:c.1240A>G
• NM_001350166.2:c.1240A>G
• NM_001350167.2:c.1240A>G
• NM_001350168.2:c.1243A>G
• NM_032236.8:c.1243A>GMANE SELECT
• NP_001027902.1:p.Met415Val
• NP_001317323.1:p.Met415Val
• NP_001337093.1:p.Met414Val
• NP_001337095.1:p.Met414Val
• NP_001337096.1:p.Met414Val
• NP_001337097.1:p.Met415Val
• NP_115612.4:p.Met415Val
• NC_000001.10:g.22056254T>C
• NM_032236.5:c.1243A>G

This HGVS expression did not pass validation

Protein change:

M414V

Links:

dbSNP: rs193921025

NCBI 1000 Genomes Browser:

rs193921025

Molecular consequence:

• NM_001032730.3:c.1243A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330394.3:c.1243A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350164.2:c.1240A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350166.2:c.1240A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350167.2:c.1240A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350168.2:c.1243A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_032236.8:c.1243A>G - missense variant - [Sequence Ontology: SO:0001583]