ClinVar

NM_000390.4(CHM):c.1920G>A (p.Lys640=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq21.2

Genomic location:

• ChrX: 85864672 (on Assembly GRCh38)
• ChrX: 85119677 (on Assembly GRCh37)

Preferred name:

NM_000390.4(CHM):c.1920G>A (p.Lys640=)

HGVS:

• NC_000023.11:g.85864672C>T
• NG_009874.2:g.187891G>A
• NM_000390.4:c.1920G>AMANE SELECT
• NM_001320959.1:c.1476G>A
• NM_001362517.1:c.1476G>A
• NM_001362518.2:c.1476G>A
• NM_001362519.1:c.1476G>A
• NP_000381.1:p.Lys640=
• NP_001307888.1:p.Lys492=
• NP_001349446.1:p.Lys492=
• NP_001349447.1:p.Lys492=
• NP_001349448.1:p.Lys492=
• LRG_699t1:c.1920G>A
• LRG_699:g.187891G>A
• NC_000023.10:g.85119677C>T
• NC_000023.10:g.85119677C>T
• NM_000390.2:c.1920G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs748006115

NCBI 1000 Genomes Browser:

rs748006115

Molecular consequence:

• NM_000390.4:c.1920G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001320959.1:c.1476G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001362517.1:c.1476G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001362518.2:c.1476G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001362519.1:c.1476G>A - synonymous variant - [Sequence Ontology: SO:0001819]