ClinVar

NM_000390.4(CHM):c.385A>G (p.Asn129Asp)

Genes:

CHM:CHM Rab escort protein [Gene - OMIM - HGNC]
LOC129391306:MPRA-validated peak7401 silencer [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq21.2

Genomic location:

• ChrX: 85963982 (on Assembly GRCh38)
• ChrX: 85218987 (on Assembly GRCh37)

Preferred name:

NM_000390.4(CHM):c.385A>G (p.Asn129Asp)

HGVS:

• NC_000023.11:g.85963982T>C
• NG_009874.2:g.88581A>G
• NM_000390.4:c.385A>GMANE SELECT
• NM_001320959.1:c.-60A>G
• NM_001362517.1:c.-60A>G
• NM_001362518.2:c.-60A>G
• NM_001362519.1:c.-60A>G
• NP_000381.1:p.Asn129Asp
• LRG_699t1:c.385A>G
• LRG_699:g.88581A>G
• NC_000023.10:g.85218987T>C
• NM_000390.2:c.385A>G

This HGVS expression did not pass validation

Protein change:

N129D

Links:

dbSNP: rs759598256

NCBI 1000 Genomes Browser:

rs759598256

Molecular consequence:

• NM_001320959.1:c.-60A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001362517.1:c.-60A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001362518.2:c.-60A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001362519.1:c.-60A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000390.4:c.385A>G - missense variant - [Sequence Ontology: SO:0001583]