ClinVar

NM_015087.5(SPART):c.627G>A (p.Pro209=)

Gene:

SPART:spartin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.3

Genomic location:

• Chr13: 36335204 (on Assembly GRCh38)
• Chr13: 36909341 (on Assembly GRCh37)

Preferred name:

NM_015087.5(SPART):c.627G>A (p.Pro209=)

HGVS:

• NC_000013.11:g.36335204C>T
• NG_011559.2:g.39977G>A
• NM_001142294.2:c.627G>A
• NM_001142295.2:c.627G>A
• NM_001142296.2:c.627G>A
• NM_015087.5:c.627G>AMANE SELECT
• NP_001135766.1:p.Pro209=
• NP_001135767.1:p.Pro209=
• NP_001135768.1:p.Pro209=
• NP_055902.1:p.Pro209=
• NC_000013.10:g.36909341C>T
• NM_015087.4:c.627G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs370385005

NCBI 1000 Genomes Browser:

rs370385005

Molecular consequence:

• NM_001142294.2:c.627G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142295.2:c.627G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142296.2:c.627G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_015087.5:c.627G>A - synonymous variant - [Sequence Ontology: SO:0001819]