ClinVar

NM_000049.4(ASPA):c.806C>T (p.Thr269Met)

Genes:

ASPA:aspartoacylase [Gene - OMIM - HGNC]
SPATA22:spermatogenesis associated 22 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.2

Genomic location:

• Chr17: 3498952 (on Assembly GRCh38)
• Chr17: 3402246 (on Assembly GRCh37)

Preferred name:

NM_000049.4(ASPA):c.806C>T (p.Thr269Met)

HGVS:

• NC_000017.11:g.3498952C>T
• NG_008399.2:g.30307C>T
• NG_008399.3:g.29844C>T
• NM_000049.4:c.806C>TMANE SELECT
• NM_001128085.1:c.806C>T
• NM_001321336.2:c.-74+14460G>A
• NM_001321337.2:c.-74+14460G>A
• NP_000040.1:p.Thr269Met
• NP_001121557.1:p.Thr269Met
• NC_000017.10:g.3402246C>T
• NM_000049.2:c.806C>T

This HGVS expression did not pass validation

Protein change:

T269M

Links:

dbSNP: rs773849106

NCBI 1000 Genomes Browser:

rs773849106

Molecular consequence:

• NM_001321336.2:c.-74+14460G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001321337.2:c.-74+14460G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000049.4:c.806C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001128085.1:c.806C>T - missense variant - [Sequence Ontology: SO:0001583]