ClinVar

NM_001182.5(ALDH7A1):c.8G>T (p.Arg3Leu)

Gene:

ALDH7A1:aldehyde dehydrogenase 7 family member A1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q23.2

Genomic location:

• Chr5: 126595191 (on Assembly GRCh38)
• Chr5: 125930883 (on Assembly GRCh37)

Preferred name:

NM_001182.5(ALDH7A1):c.8G>T (p.Arg3Leu)

Other names:

p.R3L:CGC>CTC

HGVS:

• NC_000005.10:g.126595191C>A
• NG_008600.2:g.5200G>T
• NM_001182.5:c.8G>TMANE SELECT
• NM_001201377.2:c.-77G>T
• NM_001202404.2:c.8G>T
• NP_001173.2:p.Arg3Leu
• NP_001189333.2:p.Arg3Leu
• NC_000005.9:g.125930883C>A
• NM_001182.3:c.8G>T
• NM_001182.4:c.8G>T

This HGVS expression did not pass validation

Protein change:

R3L

Links:

dbSNP: rs759866910

NCBI 1000 Genomes Browser:

rs759866910

Molecular consequence:

• NM_001201377.2:c.-77G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001182.5:c.8G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001202404.2:c.8G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1