ClinVar

NM_000304.4(PMP22):c.423G>T (p.Val141=)

Gene:

PMP22:peripheral myelin protein 22 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p12

Genomic location:

• Chr17: 15230977 (on Assembly GRCh38)
• Chr17: 15134294 (on Assembly GRCh37)

Preferred name:

NM_000304.4(PMP22):c.423G>T (p.Val141=)

HGVS:

• NC_000017.11:g.15230977C>A
• NG_007949.1:g.39351G>T
• NM_000304.4:c.423G>TMANE SELECT
• NM_001281455.2:c.423G>T
• NM_001281456.2:c.423G>T
• NM_153321.3:c.423G>T
• NM_153322.3:c.423G>T
• NP_000295.1:p.Val141=
• NP_001268384.1:p.Val141=
• NP_001268385.1:p.Val141=
• NP_696996.1:p.Val141=
• NP_696997.1:p.Val141=
• LRG_263:g.39351G>T
• NC_000017.10:g.15134294C>A
• NM_000304.3:c.423G>T
• NR_104017.2:n.518G>T
• NR_104018.2:n.418G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs144077495

NCBI 1000 Genomes Browser:

rs144077495

Molecular consequence:

• NR_104017.2:n.518G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104018.2:n.418G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000304.4:c.423G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281455.2:c.423G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281456.2:c.423G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_153321.3:c.423G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_153322.3:c.423G>T - synonymous variant - [Sequence Ontology: SO:0001819]