ClinVar

NM_001378454.1(ALMS1):c.10440A>G (p.Ala3480=)

Gene:

ALMS1:ALMS1 centrosome and basal body associated protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p13.1

Genomic location:

• Chr2: 73572317 (on Assembly GRCh38)
• Chr2: 73799444 (on Assembly GRCh37)

Preferred name:

NM_001378454.1(ALMS1):c.10440A>G (p.Ala3480=)

HGVS:

• NC_000002.12:g.73572317A>G
• NG_011690.1:g.191565A>G
• NM_001378454.1:c.10440A>GMANE SELECT
• NM_015120.4:c.10443A>G
• NP_001365383.1:p.Ala3480=
• NP_055935.4:p.Ala3481=
• LRG_741t1:c.10443A>G
• LRG_741:g.191565A>G
• LRG_741p1:p.Ala3481=
• NC_000002.11:g.73799444A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs375046790

NCBI 1000 Genomes Browser:

rs375046790

Molecular consequence:

• NM_001378454.1:c.10440A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_015120.4:c.10443A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1