ClinVar

NM_015915.5(ATL1):c.488T>C (p.Val163Ala)

Gene:

ATL1:atlastin GTPase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q22.1

Genomic location:

• Chr14: 50591605 (on Assembly GRCh38)
• Chr14: 51058323 (on Assembly GRCh37)

Preferred name:

NM_015915.5(ATL1):c.488T>C (p.Val163Ala)

HGVS:

• NC_000014.9:g.50591605T>C
• NG_009028.1:g.63524T>C
• NM_001127713.1:c.488T>C
• NM_015915.4:c.488T>C
• NM_015915.5:c.488T>CMANE SELECT
• NM_181598.4:c.488T>C
• NP_001121185.1:p.Val163Ala
• NP_056999.2:p.Val163Ala
• NP_853629.2:p.Val163Ala
• LRG_360t1:c.488T>C
• LRG_360t2:c.488T>C
• LRG_360:g.63524T>C
• LRG_360p2:p.Val163Ala
• NC_000014.8:g.51058323T>C

This HGVS expression did not pass validation

Protein change:

V163A

Links:

dbSNP: rs1595600383

NCBI 1000 Genomes Browser:

rs1595600383

Molecular consequence:

• NM_001127713.1:c.488T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_015915.5:c.488T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_181598.4:c.488T>C - missense variant - [Sequence Ontology: SO:0001583]