ClinVar

NM_002768.5(CHMP1A):c.*7C>T

Gene:

CHMP1A:charged multivesicular body protein 1A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.3

Genomic location:

• Chr16: 89646059 (on Assembly GRCh38)
• Chr16: 89712467 (on Assembly GRCh37)

Preferred name:

NM_002768.5(CHMP1A):c.*7C>T

HGVS:

• NC_000016.10:g.89646059G>A
• NG_033005.2:g.16727C>T
• NM_001083314.4:c.578C>T
• NM_002768.5:c.*7C>TMANE SELECT
• NP_001076783.1:p.Pro193Leu
• NC_000016.9:g.89712467G>A
• NG_033005.1:g.16727C>T
• NM_002768.4:c.*7C>T
• NR_046418.3:n.886C>T

This HGVS expression did not pass validation

Protein change:

P193L

Links:

dbSNP: rs768229451

NCBI 1000 Genomes Browser:

rs768229451

Molecular consequence:

• NM_002768.5:c.*7C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001083314.4:c.578C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_046418.3:n.886C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]