ClinVar

NM_000390.4(CHM):c.483C>T (p.Ser161=)

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: 85963884 (on Assembly GRCh38)
• ChrX: 85218889 (on Assembly GRCh37)

Preferred name:

NM_000390.4(CHM):c.483C>T (p.Ser161=)

HGVS:

• NC_000023.11:g.85963884G>A
• NG_009874.2:g.88679C>T
• NM_000390.4:c.483C>TMANE SELECT
• NM_001320959.1:c.39C>T
• NM_001362517.1:c.39C>T
• NM_001362518.2:c.39C>T
• NM_001362519.1:c.39C>T
• NP_000381.1:p.Ser161=
• NP_001307888.1:p.Ser13=
• NP_001349446.1:p.Ser13=
• NP_001349447.1:p.Ser13=
• NP_001349448.1:p.Ser13=
• LRG_699t1:c.483C>T
• LRG_699:g.88679C>T
• NC_000023.10:g.85218889G>A
• NC_000023.10:g.85218889G>A
• NM_000390.2:c.483C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs779693887

NCBI 1000 Genomes Browser:

rs779693887

Molecular consequence:

• NM_000390.4:c.483C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001320959.1:c.39C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001362517.1:c.39C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001362518.2:c.39C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001362519.1:c.39C>T - synonymous variant - [Sequence Ontology: SO:0001819]