ClinVar

NM_000390.4(CHM):c.1255A>G (p.Ile419Val)

Gene:

CHM:CHM Rab escort protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq21.2

Genomic location:

• ChrX: 85901178 (on Assembly GRCh38)
• ChrX: 85156183 (on Assembly GRCh37)

Preferred name:

NM_000390.4(CHM):c.1255A>G (p.Ile419Val)

HGVS:

• NC_000023.11:g.85901178T>C
• NG_009874.2:g.151385A>G
• NM_000390.4:c.1255A>GMANE SELECT
• NM_001320959.1:c.811A>G
• NM_001362517.1:c.811A>G
• NM_001362518.2:c.811A>G
• NM_001362519.1:c.811A>G
• NP_000381.1:p.Ile419Val
• NP_001307888.1:p.Ile271Val
• NP_001349446.1:p.Ile271Val
• NP_001349447.1:p.Ile271Val
• NP_001349448.1:p.Ile271Val
• LRG_699t1:c.1255A>G
• LRG_699:g.151385A>G
• NC_000023.10:g.85156183T>C
• NM_000390.2:c.1255A>G

This HGVS expression did not pass validation

Protein change:

I271V

Links:

dbSNP: rs140093046

NCBI 1000 Genomes Browser:

rs140093046

Molecular consequence:

• NM_000390.4:c.1255A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320959.1:c.811A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362517.1:c.811A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362518.2:c.811A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362519.1:c.811A>G - missense variant - [Sequence Ontology: SO:0001583]